Rare Disease Library

Hemoglobin Lepore-beta-thalassemia syndrome

HbLepore-beta-thalassemia syndrome · Lepore-beta-thalassemia syndrome

Hemophagocytic syndrome associated with an infection

IAHS · VAHS

Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

HPFH-beta-thalassemia syndrome

High bone mass osteogenesis imperfecta

High bone mass OI

HIV-associated cancer

HIV-related cancer

Idiopathic copper-associated cirrhosis

Non-Wilsonian hepatic copper toxicosis of infancy and childhood

Idiopathic pregnancy-associated osteoporosis

PAO · Pregnancy and lactation-associated osteoporosis

Immune dysregulation disease with immunodeficiency associated with EBV susceptibility

Immune dysregulation disease with immunodeficiency associated with Epstein-Barr virus susceptibility

Immunodeficiency by defective expression of MHC class I

MHC class I deficiency · Bare lymphocyte syndrome type 1

Immunodeficiency by defective expression of MHC class II

MHC class II deficiency · Bare lymphocyte syndrome type 2

Immunodeficiency due to a classical component pathway complement deficiency

Immunodeficiency due to an early component of complement deficiency · Immunodeficiency due to C1, C4, or C2 component complement deficiency

Immunodeficiency-associated lymphoproliferative disease

Infective dermatitis associated with HTLV-1

IDH · Infective dermatitis associated with human T-lymphotropic virus type 1

Lassa fever

LF · Lassa hemorrhagic fever

Low phospholipid-associated cholelithiasis

LPAC · ABCB4-related cholelithiasis

Lymphoproliferative disease associated with primary immune disease

Mandibuloacral dysplasia associated to MTX2

Mandibuloacral dysplasia progeroid syndrome · MADaM

MASS syndrome

Mitral valve-aorta-skeleton-skin syndrome

Methotrexate-associated lymphoproliferative disorders

MTX-associated lymphoproliferative disorders · MTX-LPD

Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes

Mitochondrial DNA-associated Leigh syndrome

mtDNA-associated Leigh syndrome · MILS

Mitochondrial membrane protein-associated neurodegeneration

MPAN · NBIA due to C19orf12 mutation

Multiple paragangliomas associated with polycythemia

Multiple paragangliomas associated with erythrocytosis · Paraganglioma-somatostatinoma-polycythemia syndrome

Myalgia-eosinophilia syndrome associated with tryptophan

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

5q- syndrome · MDS

Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement

8p11 myeloproliferative syndrome · Stem cell leukemia/lymphoma

Myeloid/lymphoid neoplasm associated with JAK2 rearrangement

Myeloid/lymphoid neoplasms with PCM1-JAK2

Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement

Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement

Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2

Naegeli-Franceschetti-Jadassohn syndrome

NFJ syndrome · Naegeli syndrome

Neurological muscular channelopathy due to a genetic potassium channel defect

NLRP12-associated hereditary periodic fever syndrome

FCAS2 · Familial cold autoinflammatory syndrome type 2

NLRP3-associated autoinflammatory disease

CAPS · Cryopyrinopathy

Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency

OBSOLETE: Benign infantile seizures associated with mild gastroenteritis

OBSOLETE: Channelopathy due to a calcium-activated potassium channel defect

OBSOLETE: Channelopathy due to a voltage-gated potassium channel defect

OBSOLETE: Channelopathy due to an inwardly rectifying potassium channel defect

OBSOLETE: Classic mast cell leukemia

OBSOLETE: Classic paraneoplastic limbic encephalitis

OBSOLETE: Classic paraneoplastic limbic encephalitis, with or without intracellular antigens

OBSOLETE: Classic seminoma

OBSOLETE: Diabetes associated to exocrine pancreas neoplasia

OBSOLETE: Disease with potential neoplastic degeneration associated with ocular features

OBSOLETE: Dysmorphic syndrome associated with bone anomaly

OBSOLETE: Ectodermal malformation syndrome associated with ocular features

OBSOLETE: Genetic keratinization disorder associated with ocular features

OBSOLETE: Glaucoma associated with neural crest cell migration anomaly