Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

21 matching diseasesClear search ×

Superficial siderosis

Superficial siderosis of the CNS · Superficial hemosiderosis of the CNS

ORPHA:247245

Central nervous system cystic malformation

ORPHA:269194

Central nervous system embryonal tumor

CNS PNET · Central nervous system primitive neuroectodermal tumor

ORPHA:251870

Central nervous system malformation

ORPHA:98044

Central nervous system tuberculosis

CNS tuberculosis

ORPHA:641396

Choriocarcinoma of the central nervous system

ORPHA:252015

Dermoid or epidermoid cyst of the central nervous system

Dermoid or epidermoid cyst of the CNS

ORPHA:530033

Diffuse large B-cell lymphoma of the central nervous system

Diffuse large B-cell lymphoma · DLBCL

ORPHA:300849

Embryonal carcinoma of the central nervous system

Embryonal carcinoma of the CNS

ORPHA:48736

Genetic central nervous system malformation

ORPHA:183506

Germinoma of the central nervous system

ORPHA:91352

Infectious disease of the nervous system

ORPHA:98010

Medulloepithelioma of the central nervous system

ORPHA:251883

Mixed germ cell tumor of central nervous system

Mixed germ cell tumor of CNS

ORPHA:252021

Primary angiitis of the central nervous system

Isolated angiitis of the central nervous system · PACNS

ORPHA:140989

Primary central nervous system lymphoma

PCNSL · Primary CNS lymphoma

ORPHA:46135

Primary germ cell tumor of central nervous system

Primary germ cell tumor of CNS

ORPHA:251995

Primary melanocytic tumor of central nervous system

Primary melanocytic lesion of CNS · Primary melanocytic lesion of central nervous system

ORPHA:252028

Primary melanoma of the central nervous system

Primary melanoma of the CNS · Malignant melanoma of meninges

ORPHA:252050

Teratoma of the central nervous system

ORPHA:252018

Yolk sac tumor of central nervous system

Endodermal sinus tumor of CNS · Endodermal sinus tumor of central nervous system

ORPHA:252006