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

Pruritic urticarial papules and plaques of pregnancy

Polymorphic eruption of pregnancy · PUPPP

ORPHA:64745

PsAPASH syndrome

Psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome

ORPHA:641390

Pseudo-Meigs syndrome

Pseudo-Demons-Meigs syndrome

ORPHA:314459

Pseudo-TORCH syndrome type 1

Band like calcification with simplified gyration and polymicrogyria · BLC-PMG

ORPHA:1229

Pseudo-TORCH syndrome type 2

Pseudo-TORCH syndrome-2 · PTORCH2

ORPHA:481665

Pseudo-von Willebrand disease

PT-VWD · Pseudo-von Willebrand disease type 2B

ORPHA:52530

Pseudo-Zellweger syndrome

Thiolase deficiency

ORPHA:2981

Pseudoachondroplasia

Pseudoachondroplastic dysplasia · Pseudoachondroplastic spondyloepiphyseal dysplasia

ORPHA:750

Pseudoaminopterin syndrome

ASSA · Aminopterin syndrome-like sine aminopterin

ORPHA:221120

Pseudodiastrophic dysplasia

ORPHA:85174

Pseudohypoaldosteronism

ORPHA:444916

Pseudohypoaldosteronism type 1

PHA1 · PHA type 1

ORPHA:756

Pseudohypoaldosteronism type 2

Chloride shunt syndrome · Familial hyperkalemic hypertension

ORPHA:757

Pseudohypoaldosteronism type 2A

PHA2A

ORPHA:88938

Pseudohypoaldosteronism type 2B

PHA2B

ORPHA:88939

Pseudohypoaldosteronism type 2C

PHA2C

ORPHA:88940

Pseudohypoaldosteronism type 2D

PHA2D

ORPHA:300525

Pseudohypoaldosteronism type 2E

PHA2E

ORPHA:300530

Pseudohypoparathyroidism

ORPHA:97593

Pseudohypoparathyroidism type 1A

AHO-PHP syndrome Ia · Albright hereditary osteodystrophy-PHP syndrome Ia

ORPHA:79443

Pseudohypoparathyroidism type 1B

ORPHA:94089

Pseudohypoparathyroidism type 1C

ORPHA:79444

Pseudohypoparathyroidism type 2

ORPHA:94090

Pseudohypoparathyroidism with Albright hereditary osteodystrophy

ORPHA:457059

Pseudohypoparathyroidism without Albright hereditary osteodystrophy

ORPHA:457062

Pseudoleprechaunism syndrome, Patterson type

Patterson syndrome · Patterson pseudoleprechaunism syndrome

ORPHA:2976

Pseudomyogenic hemangioendothelioma

Epithelioid sarcoma-like haemangioendothelioma · Fibroma-like variant of epithelioid sarcoma

ORPHA:673556

Pseudomyxoma peritonei

Adenomucinosis · Gelatinous ascites

ORPHA:26790

Pseudopapilledema

ORPHA:519339

Pseudopelade of Brocq

ORPHA:129

Pseudoprogeria syndrome

Hal-Berg-Rudolph syndrome · Absent eyebrows and eyelashes-intellectual disability syndrome

ORPHA:2985

Pseudopseudohypoparathyroidism

AHO-PPHP syndrome · Albright hereditary osteodystrophy-PPHP syndrome

ORPHA:79445

Pseudotyphus of California

ORPHA:83316

Pseudounicornuate uterus

Incomplete unilateral Müllerian aplasia · Incomplete unilateral aplasia of the Müllerian ducts

ORPHA:180079

Pseudoxanthoma elasticum

Gronblad-Strandberg-Touraine syndrome · PXE

ORPHA:758

Pseudoxanthoma elasticum-like papillary dermal elastolysis

PXE-like papillary dermal elastolysis

ORPHA:228293

Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa

PXE-like syndrome with retinitis pigmentosa

ORPHA:436274

Pseudoxanthomatous diffuse cutaneous mastocytosis

Infiltrative small vesicular DCM · Infiltrative small vesicular diffuse cutaneous mastocytosis

ORPHA:280794

Psittacosis

Ornithosis · Parrot fever

ORPHA:660053

Psoriasis-related juvenile idiopathic arthritis

Juvenile psoriatic arthritis · Psoriasis-related JIA

ORPHA:85436

Psychogenic movement disorders

Psychogenic dystonia

ORPHA:71519

Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome

Cerebrorenal syndrome, Perez type

ORPHA:505242

PTEN hamartoma tumor syndrome

PHTS

ORPHA:306498

Pterin-4 alpha-carbinolamine dehydratase deficiency

Hyperphenylalaninemia due to dehydratase deficiency · Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency

ORPHA:1578

Pterygium colli-intellectual disability-digital anomalies syndrome

Khalifa-Graham syndrome

ORPHA:2988

Ptosis-strabismus-ectopic pupils syndrome

McPherson-Hall syndrome

ORPHA:2999

Ptosis-syndactyly-learning difficulties syndrome

ORPHA:238766

Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome

ORPHA:228396