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"

25 matching diseasesClear search ×

Non-acquired combined pituitary hormone deficiency

Congenital combined pituitary hormone deficiency · Congenital hypopituitarism

ORPHA:467

Adrenal hypoplasia congenita

Congenital adrenal hypoplasia · AHC

ORPHA:595337

Central congenital hypothyroidism

Secondary hypothyroidism

ORPHA:226298

Combined pituitary hormone deficiencies, genetic forms

Familial congenital hypopituitarism · Multiple pituitary hormone deficiencies, genetic forms

ORPHA:95494

Congenital atransferrinemia

Congenital hypotransferrinemia

ORPHA:1195

Congenital hypogonadotropic hypogonadism

ORPHA:174590

Congenital hypothyroidism

ORPHA:442

Congenital long QT syndrome

Congenital LQTS

ORPHA:768

Congenital pulmonary vein atresia

Congenital PVA · CPVA

ORPHA:99126

Congenital renal artery stenosis

Congenital renovascular hypoplasia

ORPHA:97598

Congenital short QT syndrome

Congenital SQTS

ORPHA:51083

Congenital temporomandibular joint ankylosis

Congenital trismus

ORPHA:210576

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

ORPHA:93583

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

ORPHA:124

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

ORPHA:264675

Idiopathic congenital hypothyroidism

ORPHA:95717

Isolated congenital hypogonadotropic hypogonadism

Isolated congenital gonadotropin deficiency · Gonadotropic deficiency

ORPHA:238666

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

ORPHA:631

Non-acquired panhypopituitarism

Genetic panhypopituitarism

ORPHA:90695

Normosmic congenital hypogonadotropic hypogonadism

Normosmic idiopathic hypogonadotropic hypogonadism · nIHH

ORPHA:432

OBSOLETE: Choroideremia-hypopituitarism syndrome

OBSOLETE: CHM-hypopituitarism syndrome

ORPHA:1434

OBSOLETE: Postsurgical hypopituitarism

ORPHA:95621

Permanent congenital hypothyroidism

ORPHA:226292

Primary congenital hypothyroidism

ORPHA:226295

Transient congenital hypothyroidism

ORPHA:178045