Rare Disease Library

Phocomelia, Schinzel type

Al Awadi-Raas-Rothschild syndrome · Aplasia/hypoplasia of limbs and pelvis

Phosphoenolpyruvate carboxykinase deficiency

PEPCK deficiency

Phosphoribosylpyrophosphate synthetase superactivity

PRPP synthetase superactivity · PRPS1 superactivity

Phosphoserine aminotransferase deficiency, infantile/juvenile form

PSAT deficiency, infantile/juvenile form

Photosensitive occipital lobe epilepsy

POLE

Primary hypertrophic osteoarthropathy

Idiopathic hypertrophic osteoarthropathy · PHO

Genetic photodermatosis

Genetic skin photosensitivity · Photogenodermatosis

Glycogen storage disease due to phosphoglucomutase deficiency

GSD due to phosphoglucomutase deficiency · GSD type 14

Hypophosphatasia

HPP · Phosphoethanolaminuria

Infantile neuroaxonal dystrophy

INAD · INAD1

MPI-CDG

CDG syndrome type Ib · CDG-Ib

Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency

Phosphoserine aminotransferase deficiency, prenatal form

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

PAICS deficiency

Phosphoribosylaminoimidazole carboxylase deficiency

PGM1-CDG

CDG syndrome type It · CDG-It

PMM2-CDG

CDG syndrome type Ia · CDG-Ia

Von Voss-Cherstvoy syndrome

DK phocomelia syndrome · Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome

3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

PHGDH deficiency, infantile/juvenile form

3-phosphoserine phosphatase deficiency, infantile/juvenile form

PSPH deficiency, infantile/juvenile form

6-phosphogluconate dehydrogenase deficiency

Acquired hemophagocytic lymphohistiocytosis associated with malignant disease

Hemophagocytic lymphohistiocytosis · HLH

Acute lymphoblastic leukemia

ALL · Acute lymphoblastic leukemia/lymphoma

Adenine phosphoribosyltransferase deficiency

2,8-dihydroxyadenine urolithiasis · APRT deficiency

Adenosine monophosphate deaminase deficiency

AMP deaminase deficiency · Myoadenylate deaminase deficiency

Adult hypophosphatasia

Adult Rathbun disease · Adult phosphoethanolaminuria

Adult T-cell leukemia/lymphoma

ATLL

Aggressive B-cell non-Hodgkin lymphoma

Aggressive B-cell NHL

Aggressive primary cutaneous B-cell lymphoma

Aggressive primary cutaneous T-cell lymphoma

CTCL · Mycosis fungoides

ALK-negative anaplastic large cell lymphoma

ALK- ALCL · ALK- anaplastic large cell lymphoma

ALK-positive anaplastic large cell lymphoma

ALK+ ALCL · ALK+ anaplastic large cell lymphoma

ALK-positive large B-cell lymphoma

ALK+ LBCL · ALK+ large B-cell lymphoma

Anaplastic large cell lymphoma

ALCL · CD30 positive anaplastic large cell lymphoma

Angioimmunoblastic T-cell lymphoma

AILT · Immunoblastic lymphadenopathy

Antiphospholipid syndrome

Classic antiphospholipid syndrome · APLS

Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome

Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome · Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome

Ataxia-photosensitivity-short stature syndrome

Fenton-Wilkinson-Toselano syndrome

Atrophoderma of Pasini and Pierini

Atrophoderma vermiculata

Folliculitis ulerythematosa reticulate

Autoimmune lymphoproliferative syndrome

ALPS · Canale-Smith syndrome

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

ALPS due to CTLA4 haploinsuffiency · CHAI

Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency

CEDS · Caspase 8 deficiency syndrome

Autosomal dominant hypophosphatemic rickets

ADHR · Autosomal dominant hypophosphatemia

Autosomal recessive hypophosphatemic rickets

ARHR

B-cell chronic lymphocytic leukemia

B-cell chronic lymphoid leukemia · B-CLL

B-cell non-Hodgkin lymphoma

B-cell NHL

B-cell prolymphocytic leukemia

B-PLL

B-lymphoblastic leukemia/lymphoma with hyperdiploidy