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"

8 matching diseasesClear search ×

Sex-chromosome structural anomaly syndrome

Allosome structural anomaly

ORPHA:98157

Autosomal anomaly syndrome

ORPHA:98127

Chromosome X structural anomaly syndrome

ORPHA:98159

Chromosome Y structural anomaly syndrome

ORPHA:98158

OBSOLETE: Eyebrow/eyelashes structural anomaly

ORPHA:98599

Sex-chromosome anomaly syndrome

Allosome anomaly

ORPHA:98155

Sex-chromosome number anomaly syndrome

Allosome number anomaly

ORPHA:98156

Turner syndrome due to structural X chromosome anomalies

ORPHA:99413