Rare Disease Library

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

Hair defect-photosensitivity-intellectual disability syndrome

Calderón-González-Cantu syndrome

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

Hepatosplenic T-cell lymphoma

Hereditary hypophosphatemic rickets with hypercalciuria

HHRH

High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement

Hodgkin lymphoma

Hydroa vacciniforme-like lymphoma

HVLL · Angiocentric cutaneous T-cell lymphoma of childhood

Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

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

Hyperphosphatasia-intellectual disability syndrome

Mabry syndrome

Hypophosphatemic rickets

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

HPRT deficiency, grade I · HPRT partial deficiency

Hypoxanthine-guanine phosphoribosyltransferase deficiency

HPRT deficiency · HPRT1 deficiency

Ichthyosis follicularis-alopecia-photophobia syndrome

IFAP syndrome · Ichthyosis follicularis-atrichia-photophobia syndrome

Idiopathic CD4 lymphocytopenia

Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome

Immunodeficiency-associated lymphoproliferative disease

Indolent B-cell non-Hodgkin lymphoma

Indolent B-cell NHL

Indolent primary cutaneous B-cell lymphoma

Indolent primary cutaneous T-cell lymphoma

CTCL · Mycosis fungoides

Infantile hypophosphatasia

Infantile phosphoethanolaminuria · Infantile Rathbun disease

Inherited cancer-predisposing lymphoproliferative syndrome

Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

MCAHS type 3 · Multiple congenital anomalies-hypotonia-seizures syndrome type 3

Intravascular large B-cell lymphoma

Angioendotheliomatosis proliferans systemisata · Angiotropic large cell lymphoma

Invasive non-typhoidal salmonellosis

Invasive non-typhoidal salmonella disease · iNTS disease

Isolated asymptomatic elevation of creatine phosphokinase

Isolated asymptomatic hyperCKemia · Idiopathic asymptomatic hyperCKemia

Isolated oxidative phosphorylation complex disorder

Isolated respiratory chain complex disorder

Jessner lymphocytic infiltration of the skin

Jessner-Kanof lymphocytic infiltration of the skin

Kyphomelic dysplasia

Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome

Kyphoscoliosis-lateral tongue atrophy-HSP syndrome

Kyphoscoliotic Ehlers-Danlos syndrome

Kyphoscoliotic EDS · kEDS

Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency

Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss · FKBP22-deficient EDS

Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency

EDS VIA · Ocular-scoliotic EDS

Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome

Large granular lymphocyte leukemia

Linear atrophoderma of Moulin

Low phospholipid-associated cholelithiasis

LPAC · ABCB4-related cholelithiasis

Lymphocytic hypereosinophilic syndrome

HES-L · Lymphocytic variant HES

Lymphocytic mastitis

Lymphocytic mastopathy · Sclerosing lymphocytic lobulitis

Lymphoepithelial cyst of the pancreas

Pancreatic lymphoepithelial cyst

Lymphoepithelial-like carcinoma

Lymphoid hemopathy

Lymphoid interstitial pneumonia

Lymphocytic interstitial pneumonia

Lymphoma