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 ×

Short stature due to GHSR deficiency

Ghrelin receptor deficiency · Short stature due to growth hormone secretagogue receptor deficiency

ORPHA:314811

Growth hormone insensitivity syndrome

GHIS · Short stature due to a defect in growth hormone receptor or post-receptor pathway

ORPHA:181393

Laron syndrome

Complete growth hormone insensitivity · GH receptor deficiency

ORPHA:633

Laron syndrome with immunodeficiency

Laron-like syndrome · Short stature due to STAT5b deficiency

ORPHA:220465

Short stature due to growth hormone qualitative anomaly

Kowarski syndrome

ORPHA:629

Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

ORPHA:632

Short stature due to partial GHR deficiency

Short stature due to partial growth hormone receptor deficiency

ORPHA:314802

Short stature-delayed bone age due to thyroid hormone metabolism deficiency

ORPHA:171706