Rare Disease Library

Mulibrey nanism

Muscle-liver-brain-eye nanism · MUL

Multicentric carpo-tarsal osteolysis with or without nephropathy

Idiopathic multicentric osteolysis with or without nephropathy

Multicentric osteolysis-nodulosis-arthropathy spectrum

MONA spectrum

Multicentric reticulohistiocytosis

Lipoid dermatoarthritis · Giant cell histiocytomatosis

Multicystic dysplastic kidney

MCDK · Multicystic renal dysplasia

Multifocal atrial tachycardia

Chaotic atrial tachycardia · MAT

Multifocal infantile hemangioma with extracutenous involvement

Diffuse neonatal hemangiomatosis

Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome

MLT · Cutaneovisceral angiomatosis-thrombocytopenia syndrome

Multifocal motor neuropathy

MMN · MMNCB

Multifocal pattern dystrophy simulating fundus flavimaculatus

Multifocal pattern dystrophy simulating Stargardt disease

Multifocal tuberculosis

Multilocular cystic renal neoplasm of low malignant potential

Multilocular cystic renal cell adenocarcinoma · Multilocular cystic renal cell carcinoma

Multiloculated renal cyst

Multilocular cyst of the kidney · Multilocular renal cyst

Multiminicore myopathy

MmD · Multiminicore disease

Multinodular goiter-cystic kidney-polydactyly syndrome

Daneman-Davy-Mancer syndrome · Thyroid-renal-digital anomalies

Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

MARCH syndrome

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

Multiple acyl-CoA dehydrogenase deficiency, mild type

MAD deficiency, mild type · MADD, mild type

Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

MAD deficiency, severe neonatal type · Glutaric aciduria type 2, severe neonatal type

Multiple benign circumferential skin creases on limbs

CCSF · Congenital circumferential skin folds

Multiple carboxylase deficiency

MCD

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 congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome

PRR12-related neuroocular syndrome

Multiple congenital anomalies/dysmorphic syndrome

Multiple congenital anomalies/dysmorphic syndrome without intellectual disability

MCA without intellectual disability · Multiple congenital anomalies without intellectual disability with or without dysmorphism

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

MCA/MR · Multiple congenital anomalies-intellectual disability with or without dysmorphism

Multiple endocrine neoplasia

MEN

Multiple endocrine neoplasia type 1

MEN1 · Wermer syndrome

Multiple endocrine neoplasia type 2

MEN2

Multiple endocrine neoplasia type 2A

MEN2A · PTC syndrome

Multiple endocrine neoplasia type 2B

MEN2B · Multiple endocrine neoplasia type 3

Multiple endocrine neoplasia type 4

MEN4

Multiple epiphyseal dysplasia

MED · EDM

Multiple epiphyseal dysplasia and pseudoachondroplasia

Multiple epiphyseal dysplasia due to collagen 9 anomaly

Multiple epiphyseal dysplasia type 1

EDM1 · MED1

Multiple epiphyseal dysplasia type 4

Autosomal recessive multiple epiphyseal dysplasia · EDM4

Multiple epiphyseal dysplasia type 5

Bilateral hereditary micro-epiphyseal dysplasia · BHMED

Multiple epiphyseal dysplasia type 7

MED7 · EDM7

Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome

Multiple epiphyseal dysplasia, Al-Gazali type

Multiple epiphyseal dysplasia-miniepiphyses syndrome

Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome

Multiple epiphyseal dysplasia, Beighton type

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

Multiple epiphyseal dysplasia, Lowry type

Multiple epiphyseal dysplasia with Robin phenotype

Multiple evanescent white dot syndrome

MEWDS

Multiple metaphyseal dysplasia

Multiple mitochondrial DNA deletion syndrome

Multiple mtDNA deletion syndrome