Rare Disease Library

Lymphedema-posterior choanal atresia syndrome

Lymphedema-ptosis syndrome

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

Lymphomatoid granulomatosis

LYG

Lymphomatoid papulosis

LyP

Lymphoplasmacytic inflammatory pseudotumor of the liver

IgG4-related inflammatory pseudotumor of the liver

Lymphoplasmacytic lymphoma without IgM production

Lymphoplasmacytic lymphoma without Immunoglobulin M production

Lymphoproliferative disease associated with primary immune disease

Lynch syndrome

Lysinuric protein intolerance

LPI · Hyperdibasic aminoaciduria

Lysosomal acid lipase deficiency

LAL deficiency · LALD

Lysosomal acid phosphatase deficiency

Lysosomal disease

Lysosomal disease with epilepsy

Lysosomal disease with hypertrophic cardiomyopathy

Lysosomal disease with restrictive cardiomyopathy

Lysosomal glycogen storage disease

Lysosomal storage disease with skeletal involvement

Dysostosis multiplex

Machado-Joseph disease type 1

SCA3, Joseph type · Spinocerebellar ataxia type 3, Joseph type

Machado-Joseph disease type 2

SCA3, Thomas type · Spinocerebellar ataxia, Thomas type

Machado-Joseph disease type 3

SCA3, Machado type · Spinocerebellar ataxia type 3, Machado type

Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome

Nabais Sa-de Vries type 2 syndrome

Macrocephaly-developmental delay syndrome

Macrocephaly-intellectual disability-autism syndrome

Macrocephaly-intellectual disability-left ventricular non compaction syndrome

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Smith-Kingsmore syndrome · MINDS syndrome

Macrocephaly-short stature-paraplegia syndrome

Volcke-Soekarman syndrome

Macrocephaly-spastic paraplegia-dysmorphism syndrome

Fryns macrocephaly

Macrocystic lymphatic malformation

Cavernous lymphangioma · Cavernous lymphatic malformation

Macrodactyly of fingers

Macrodactyly of hand

Macrodactyly of fingers, bilateral

Macrodactyly of hand, bilateral

Macrodactyly of fingers, unilateral

Macrodactyly of hand, unilateral

Macrodactyly of toes

Macrodactyly of foot

Macrodactyly of toes, bilateral

Macrodactyly of foot, bilateral

Macrodactyly of toes, unilateral

Macrodactyly of foot, unilateral

Macroglossia

Macrophage activation syndrome

Macrophage or histiocytic tumor

Macrophagic myofasciitis

MMF

Macrosomia-microphthalmia-cleft palate syndrome

Teebi-Al Saleh-Hassoon syndrome

Macrostomia-preauricular tags-external ophthalmoplegia syndrome

Macrothrombocytopenia with mitral valve insufficiency