Rare Disease Library

Autosomal dominant macrothrombocytopenia

Benign concentric annular macular dystrophy

Best vitelliform macular dystrophy

BMD · BVMD

Blastic plasmacytoid dendritic cell neoplasm

BPDCN

Central bilateral macrogyria

Coloboma of macula

Coloboma of macula-brachydactyly type B syndrome

Sorsby syndrome

Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome

COMMAD syndrome

Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome

Confetti-like macular atrophy

Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome

Serpentine-like syndrome

Congenital macroglossia

Corpus callosum agenesis-macrocephaly-hypertelorism syndrome

7q36.3 microduplication syndrome · Dup(7)(q36.3)

Cushing syndrome due to bilateral macronodular adrenocortical disease

CS due to BMACD · Cushing syndrome due to BMACD

Cystoid macular dystrophy

Autosomal dominant cystoid macular edema · DCMD

Extramedullary soft tissue plasmacytoma

Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

Familial isolated café-au-lait macules

Familial isolated CALSs · Multiple isolated café-au-lait spots

Familial retinal arterial macroaneurysm

FRAM · Retinal arterial macroaneurysm and supravalvular pulmonic stenosis

Gastric adenocarcinoma and proximal polyposis of the stomach

Familial fundic gland polyposis with gastric cancer · GAPPS

Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome

Ornithine decarboxylase deficiency · Bachmann-Bupp syndrome

Guttmacher syndrome

Preaxial deficiency-postaxial polydactyly-hypospadias syndrome

Hereditary bullous dystrophy, macular type

Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome

Westerhof-Beemer-Cormane syndrome

Hypotrichosis with juvenile macular degeneration

HJMD · Hypotrichosis with juvenile macular dystrophy

Ichthyosis hystrix of Curth-Macklin

Ichthyosis hystrix, Curth-Macklin type

Idiopathic macular telangiectasia type 1

Aneurysmal telangiectasia · Visible and exudative idiopathic juxtafoveolar retinal telangiectasis

Idiopathic macular telangiectasia type 3

Occlusive idiopathic juxtafoveolar retinal telangiectasis

Inflammatory myopathy with abundant macrophages

IMAM

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

Autosomal recessive spinocerebellar ataxia type 20 · Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome

Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome

KMT5B haploinsufficiency neurodevelopmental disorder

Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

PPP2R5D-related neurodevelopmental disorder · Houge-Janssens syndrome type 1

Intellectual disability-seizures-macrocephaly-obesity syndrome

Der(8)t(8;12)

Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome

Lowry-MacLean syndrome

Lymphoplasmacytic inflammatory pseudotumor of the liver

IgG4-related inflammatory pseudotumor of the liver

Lymphoplasmacytic lymphoma without IgM production

Lymphoplasmacytic lymphoma without Immunoglobulin M production

Mediterranean macrothrombocytopenia

Multifocal pattern dystrophy simulating fundus flavimaculatus

Multifocal pattern dystrophy simulating Stargardt disease

Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome

Multiple epiphyseal dysplasia, Al-Gazali type

Neuroendocrine tumor of stomach

Gastric NET · Gastric neuroendocrine tumor

North Carolina macular dystrophy

CAPE dystrophy · CAPED

OBSOLETE: Carcinoma of stomach, salivary gland type

OBSOLETE: Gastric carcinoma, salivary gland type

OBSOLETE: Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome

OBSOLETE: Disease predisposing to age-related macular degeneration

OBSOLETE: Genetic macular dystrophy

OBSOLETE: Isolated macular dystrophy

OBSOLETE: Macrocephaly-immune deficiency-anemia syndrome