Rare Disease Library

Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder

PLA2G4A-related platelet dysfunction · Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency

Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation

Disorder of glycosphingolipid and GPI-anchored proteins glycosylation

Disorder of pentose phosphate metabolism

Disorder of phospholipids, sphingolipids and fatty acids biosynthesis

Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement

Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement

Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement

Dominant hypophosphatemia with nephrolithiasis or osteoporosis

Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome

FHEIG syndrome

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome

Hypercalcemic tumoral calcinosis

Familial normophosphatemic tumoral calcinosis

Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

Fatal mitochondrial disease due to COXPD3

Fructose-1,6-bisphosphatase deficiency

FBPase deficiency · Fructose-1,6-diphosphatase deficiency

Genetic primary orthostatic disorder

Genetic primary orthostatic hypotension

Ghosal hematodiaphyseal dysplasia

Diaphyseal dysplasia-anemia syndrome · Ghosal syndrome

Gingival fibromatosis-hypertrichosis syndrome

CGHT · Congenital generalized hypertrichosis terminalis

Glycogen storage disease due to glucose-6-phosphatase deficiency

G6P deficiency · GSD due to G6P deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia

G6P deficiency type 1a · GSD type 1a

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

G6P translocase deficiency · G6PT deficiency

Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

GSD due to liver and muscle phosphorylase kinase deficiency · GSD type 9B

Glycogen storage disease due to liver glycogen phosphorylase deficiency

GSD due to liver glycogen phosphorylase deficiency · Glycogen storage disease type 6

Glycogen storage disease due to liver phosphorylase kinase deficiency

GSD due to liver phosphorylase kinase deficiency · GSD type 9A

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

GSD due to muscle glycogen phosphorylase deficiency · GSD type 5

Glycogen storage disease due to muscle phosphofructokinase deficiency

GSD due to muscle phosphofructokinase deficiency · GSD type 7

Glycogen storage disease due to muscle phosphorylase kinase deficiency

GSD due to muscle phosphorylase kinase deficiency · GSD type 9D

Glycogen storage disease due to phosphoglucomutase deficiency

GSD due to phosphoglucomutase deficiency · GSD type 14

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

GSD due to phosphoglycerate kinase 1 deficiency · Glycogenosis due to phosphoglycerate kinase 1 deficiency

Glycogen storage disease due to phosphoglycerate mutase deficiency

Glycogen storage disease due to phosphoglycerate mutase 2 deficiency · GSD type 10

Glycogen storage disease due to phosphorylase kinase deficiency

GSD due to phosphorylase kinase deficiency · GSD type 9

Graft versus host disease

GvHD

Hemolytic anemia due to diphosphoglycerate mutase deficiency

Hemolytic anemia due to glucophosphate isomerase deficiency

Glucose-6-phosphate isomerase deficiency · GPI deficiency

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Hepatoencephalopathy due to COXPD1

Hereditary hypophosphatemic rickets with hypercalciuria

HHRH

Hereditary hypotrichosis with recurrent skin vesicles

Hereditary North American Indian childhood cirrhosis

Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

Congenital disorder of glycosylation due to PIGM deficiency · PIGM-CDG

Hyperphosphatasia-intellectual disability syndrome

Mabry syndrome

Hypertrichosis cubiti

MacDermot-Patton-Williams syndrome · Hairy elbows syndrome

Hypertrichosis lanuginosa congenita

Hypertrichosis universalis

Hypertrichosis-acromegaloid facial appearance syndrome

HAFF · Hypertrichosis-acromegaloid facial features syndrome

Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome

Autosomal recesive ectodermal dysplasia 14 · ARED14

Hypophosphatasia

HPP · Phosphoethanolaminuria

Hypophosphatemic rickets

Hypotrichosis simplex

Hereditary hypotrichosis simplex

Hypotrichosis simplex of the scalp

Hereditary hypotrichosis simplex of the scalp