Rare Disease Library

Holt-Oram syndrome

Atriodigital dysplasia type 1 · HOS

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

Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome

Acquired hypertrichosis lanuginosa

Acute graft versus host disease

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

Amaurosis-hypertrichosis syndrome

Antiphospholipid syndrome

Classic antiphospholipid syndrome · APLS

Autosomal dominant hypophosphatemic rickets

ADHR · Autosomal dominant hypophosphatemia

Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome

Autosomal recessive hypophosphatemic rickets

ARHR

C12ORF65-related combined oxidative phosphorylation defect

C12ORF65-related COXPD

Carbamoyl-phosphate synthetase 1 deficiency

CPS1 deficiency · CPS1D

Cataract-hypertrichosis-intellectual disability syndrome

CAHMR syndrome

Catastrophic antiphospholipid syndrome

CAPS · Catastrophic APS

Cervical hypertrichosis-peripheral neuropathy syndrome

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Childhood-onset hypophosphatasia

Childhood-onset phosphoethanolaminuria · Childhood-onset Rathbun disease

Chronic graft versus host disease

Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

Class I glucose-6-phosphate dehydrogenase deficiency

Class I G6PD deficiency · Severe hemolytic anemia due to G6PD deficiency

Combined oxidative phosphorylation defect type 11

COXPD11

Combined oxidative phosphorylation defect type 13

COXPD13

Combined oxidative phosphorylation defect type 14

COXPD14

Combined oxidative phosphorylation defect type 15

COXPD15

Combined oxidative phosphorylation defect type 17

COXPD17

Combined oxidative phosphorylation defect type 2

COXPD2

Combined oxidative phosphorylation defect type 20

COXPD20

Combined oxidative phosphorylation defect type 21

COXPD21

Combined oxidative phosphorylation defect type 23

COXPD23

Combined oxidative phosphorylation defect type 24

COXPD24

Combined oxidative phosphorylation defect type 25

COXPD25

Combined oxidative phosphorylation defect type 26

COXPD26

Combined oxidative phosphorylation defect type 27

COXPD27

Combined oxidative phosphorylation defect type 29

COXPD29

Combined oxidative phosphorylation defect type 30

COXPD30

Combined oxidative phosphorylation defect type 39

GFM2-related combined oxidative phosphorylation defect · COXPD39

Combined oxidative phosphorylation defect type 4

COXPD4

Combined oxidative phosphorylation defect type 7

Severe C12ORF65-related combined oxidative phosphorylation defect · Severe C12ORF65-related COXPD

Combined oxidative phosphorylation defect type 8

COXPD8

Combined oxidative phosphorylation defect type 9

COXPD9

Congenital generalized hypertrichosis, Ambras type

Ambras syndrome

Crouzon syndrome-acanthosis nigricans syndrome

Crouzon-dermoskeletal syndrome

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome

Beare-Stevenson cutis gyrata syndrome