Rare Disease Library

Leiomyosarcoma

Leiomyosarcoma of small intestine

Leiomyosarcoma of the cervix uteri

Cervical leiomyosarcoma

Leiomyosarcoma of the corpus uteri

Leishmaniasis

Léri-Weill dyschondrosteosis

Léri-Weill syndrome

Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

Lichtenstein syndrome

Lipoid proteinosis

Hyalinosis cutis et mucosae · Urbach-Wiethe disease

Lipoprotein glomerulopathy

LPG

Lymphangioleiomyomatosis

LAM

Lysinuric protein intolerance

LPI · Hyperdibasic aminoaciduria

Male infertility with normal virilization due to meiosis defect

Azoospermia due to maturation arrest · Azoospermia due to meiosis defect

Medial condensing osteitis of the clavicle

Osteitis condensans of the clavicle

Meige disease

Hereditary lymphedema type II · Meige lymphedema

Meigs syndrome

Demons-Meigs syndrome

Mesomelic dwarfism, Reinhardt-Pfeiffer type

Reinhardt-Pfeiffer mesomelic dysplasia · Reinhardt-Pfeiffer syndrome

Microcephaly-seizures-intellectual disability-heart disease syndrome

Mirhosseini-Holmes-Walton syndrome

Pigmentary retinopathy-intellectual disability syndrome

Mitochondrial disorder due to a defect in mitochondrial protein synthesis

Combined OXPHOS defect · Combined OXPHOS deficiency

Mitochondrial DNA-associated Leigh syndrome

mtDNA-associated Leigh syndrome · MILS

Mitochondrial membrane protein-associated neurodegeneration

MPAN · NBIA due to C19orf12 mutation

Mitochondrial protein import disorder

Mitochondrial trifunctional protein deficiency

TFP deficiency · TFPD

Mueller-Weiss syndrome

Mueller-Weiss osteonecrosis of the tarsal bone · Brailsford disease

Multiple congenital anomalies-hypotonia-seizures syndrome

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

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

MCAHS type 2

Multiple epiphyseal dysplasia, Beighton type

Multiple epiphyseal dysplasia-myopia-hearing loss syndrome · Multiple epiphyseal dysplasia-myopia-deafness syndrome

Neuhauser-Eichner-Opitz syndrome

Recurrent encephalophathy of childhood

Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome

GPAA1-related biosynthesis defect

Non-hypoproteinemic hypertrophic gastropathy

Hypertrophic gastropathy without hypoproteinemia

Non-infectious anterior uveitis

Non-infectious iridocyclitis

Non-infectious posterior uveitis

Non-infectious choroiditis

Non-malignant and non-cirrhotic portal vein thrombosis

Non-cirrhotic and non-tumoral portal vein thrombosis · Non-malignant non-cirrhotic PVT

OBSOLETE: Acheiria, bilateral

OBSOLETE: Congenital absence of hand, bilateral

OBSOLETE: Acheiria, unilateral

OBSOLETE: Congenital absence of hand, unilateral

OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome

OBSOLETE: Aseptic osteitis

OBSOLETE: Benign infantile seizures associated with mild gastroenteritis

OBSOLETE: Cholesterol-ester transfer protein deficiency

OBSOLETE: CEPT deficiency · OBSOLETE: Familial hyperalphalipoproteinemia type I

OBSOLETE: Congenital myopathy with central nuclei

OBSOLETE: Congenital myopathy with protein accumulation

OBSOLETE: Facial asymmetry-temporal seizures syndrome

OBSOLETE: Generalized epilepsy and praxis-induced seizures

OBSOLETE: Heinz body anemia

OBSOLETE: Hyperlipoproteinemia type 5

OBSOLETE: HLP type 5 · OBSOLETE: Major hyperlipidemia

OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome

OBSOLETE: Christian-Rosenberg syndrome

OBSOLETE: Marseilles fever