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 ×

Laron syndrome

Complete growth hormone insensitivity · GH receptor deficiency

ORPHA:633

Acquired pituitary hormone deficiency

ORPHA:95502

GRFoma

GRF tumor · Growth hormone releasing factor tumor

ORPHA:97261

Growth hormone insensitivity syndrome

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

ORPHA:181393

Isolated growth hormone deficiency type IA

Congenital IGHD type IA · Congenital isolated GH deficiency type IA

ORPHA:231662

Isolated growth hormone deficiency type IB

Congenital IGHD type IB · Congenital isolated GH deficiency type IB

ORPHA:231671

Isolated growth hormone deficiency type II

Congenital IGHD type II · Congenital isolated GH deficiency type II

ORPHA:231679

Isolated growth hormone deficiency type III

Congenital IGHD type III · Congenital isolated GH deficiency type III

ORPHA:231692

Isolated growth hormone deficiency type IV

ORPHA:684247

Neurodegenerative syndrome due to cerebral folate transport deficiency

Folate receptor alpha deficiency · Cerebral folate transport deficiency

ORPHA:217382

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

ORPHA:631

Obesity due to leptin receptor gene deficiency

ORPHA:179494

Short stature due to GHSR deficiency

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

ORPHA:314811

Short stature due to partial GHR deficiency

Short stature due to partial growth hormone receptor deficiency

ORPHA:314802