All patient-facing tools are free · No login required to browse
All access tools are free for patients and caregivers
All community tools are free for patients and caregivers
7 Patents Filed · HIPAA-Aligned · Free for Patients · Westwood, MA
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"
Cerebellar ataxia-hypogonadism syndrome
Gordon-Holmes syndrome · Luteinizing hormone-releasing hormone deficiency with ataxia
Ataxia with vitamin E deficiency
AVED · Ataxia with isolated vitamin E deficiency
Isolated congenital hypogonadotropic hypogonadism
Isolated congenital gonadotropin deficiency · Gonadotropic deficiency
Isolated thyrotropin-releasing hormone deficiency
Isolated TRF deficiency · Isolated TRH deficiency
Leydig cell hypoplasia
46,XY DSD due to LH resistance or LHB deficiency · 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
Leydig cell hypoplasia due to LHB deficiency
46,XY DSD due to LHB deficiency · 46,XY DSD due to luteinizing hormone subunit beta deficiency