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"

14 matching diseasesClear search ×

Attenuated Chédiak-Higashi syndrome

Atypical Chédiak-Higashi syndrome

ORPHA:352723

Atypical hemolytic uremic syndrome

aHUS · atypical hemolytic uremic syndrome

ORPHA:2134

Atypical hemolytic uremic syndrome with anti-factor H antibodies

aHUS · aHUS with anti-factor H antibodies

ORPHA:93581

Atypical hemolytic uremic syndrome with complement gene abnormality

aHUS · aHUS with complement gene abnormality

ORPHA:544472

Atypical hypotonia-cystinuria syndrome

Atypical HCS

ORPHA:238523

Atypical Meigs syndrome

Atypical Demons-Meigs syndrome · Incomplete Meigs syndrome

ORPHA:314466

Atypical progressive supranuclear palsy syndrome

Atypical PSP syndrome

ORPHA:99750

Atypical Rett syndrome

Atypical RTT · Rett syndrome variant

ORPHA:3095

Atypical Timothy syndrome

ATS · Atypical LQT8

ORPHA:595109

Atypical Werner syndrome

Atypical progeroid syndrome

ORPHA:79474

Chédiak-Higashi syndrome

Chédiak-Higashi disease · Chédiak-Higashi-Steinbrink syndrome

ORPHA:167

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

ORPHA:404560

Griscelli syndrome

Chédiak-Higashi-like syndrome · Griscelli-Pruniéras syndrome

ORPHA:381

Mayer-Rokitansky-Küster-Hauser syndrome type 2

Atypical MRKH syndrome · MRKH syndrome type 2

ORPHA:2578