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"

10,911 rare diseases

Pituitary deficiency

ORPHA:101957

Pituitary deficiency due to empty sella turcica syndrome

Hypopituitarism due to empty sella turcica syndrome

ORPHA:91354

Pituitary deficiency due to Rathke cleft cysts

ORPHA:91350

Pituitary dermoid and epidermoid cysts

ORPHA:91351

Pituitary gigantism

Hypophyseal gigantism · Infantile and juvenile forms of acromegaly

ORPHA:99725

Pituitary hormone deficiency of meningeal origin

ORPHA:95505

Pituitary hormone deficiency of tumoral origin

ORPHA:95503

Pituitary hormone deficiency of vascular origin

ORPHA:95611

Pituitary hormone deficiency secondary to a granulomatous disease

ORPHA:95617

Pituitary hormone deficiency secondary to storage disease

ORPHA:95618

Pituitary resistance to thyroid hormone

PRTH · Selective pituitary resistance to thyroid hormone

ORPHA:165994

Pituitary stalk interruption syndrome

Ectopic neurohypophysis · PSIS

ORPHA:95496

Pituitary tumor

ORPHA:304055

Pityriasis rubra pilaris

ORPHA:2897

PLA2G6-associated neurodegeneration

PLAN

ORPHA:329303

PLAA-associated neurodevelopmental disorder

PLAAND

ORPHA:521426

Placenta accreta spectrum disorder

PAS · Abnormally invasive placenta

ORPHA:662721

Placental insufficiency

Uteroplacental vascular insufficiency

ORPHA:439167

Placental site trophoblastic tumor

PSST

ORPHA:99928

Plague

Yersinia pestis infection · Y. pestis infection

ORPHA:707

Plaque-form urticaria pigmentosa

ORPHA:158769

Plasma cell leukemia

PCL

ORPHA:454714

Plasma cell tumor

ORPHA:98282

Plasmablastic lymphoma

PBL

ORPHA:289666

Plasmacytoma

Solitary plasmacytoma

ORPHA:86855

Plastic bronchitis

Croupous bronchitis · Fibrinous bronchitis

ORPHA:439881

Platelet-activating anti-platelet factor 4 disorder

Anti-platelet factor 4 disorder · Anti-PF4 disorder

ORPHA:698914

Platyspondylic dysplasia, Torrance type

PLSD-T · Platyspondylic dysplasia, Torrance-Luton type

ORPHA:85166

PLCG2-associated antibody deficiency and immune dysregulation

FACU · Familial atypical cold urticaria

ORPHA:300359

PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement

PLEC-related intermediate EBS without extracutaneous involvement

ORPHA:79401

Plectin-related limb-girdle muscular dystrophy R17

LGMD2Q · Plectin-related LGMD R17

ORPHA:254361

Pleomorphic liposarcoma

PLS

ORPHA:99969

Pleomorphic rhabdomyosarcoma

ORPHA:293199

Pleomorphic xanthoastrocytoma

PXA

ORPHA:251607

Pleural empyema

ORPHA:449266

Pleural mesothelioma

ORPHA:50251

Pleural mesothelioma in situ

ORPHA:675841

Pleuro-pericardial cyst

ORPHA:99131

Pleuropulmonary blastoma

ORPHA:64742

Pleuropulmonary blastoma type 1

ORPHA:99933

Pleuropulmonary blastoma type 2

ORPHA:99934

Pleuropulmonary blastoma type 3

ORPHA:99935

PLG-related hereditary angioedema with normal C1Inh

HAE · PLG-related HAE with normal C1 inhibitor

ORPHA:537072

PLIN1-related familial partial lipodystrophy

FPLD4 · PLIN1-related FPLD

ORPHA:280356

Plummer-Vinson syndrome

Kelly-Paterson syndrome · Sideropenic dysphagia

ORPHA:54028

PMM2-CDG

CDG syndrome type Ia · CDG-Ia

ORPHA:79318

PMP2-related Charcot-Marie-Tooth disease type 1

PMP2-related CMT1 · PMP2-related Charcot-Marie-Tooth neuropathy type 1

ORPHA:476394

PMP22-RAI1 contiguous gene duplication syndrome

Yuan-Harel-Lupski syndrome · 17p11.2p12 microduplication syndrome

ORPHA:477817