Rare Disease Library

Mucopolysaccharidosis type 4

MPS4 · MPSIV

Mucopolysaccharidosis type 4A

GALNS deficiency · Galactosamine-6-sulfatase deficiency

Mucopolysaccharidosis type 4B

Beta-D-galactosidase deficiency · MPS4B

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

Mucopolysaccharidosis type 6, rapidly progressing

Arylsulfatase B deficiency, rapidly progressing · MPS6, rapidly progressing

Mucopolysaccharidosis type 6, slowly progressing

Arylsulfatase B deficiency, slowly progressing · MPS6, slowly progressing

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

Mucopolysaccharidosis with skin involvement

MPS with skin involvement

Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders

Mucopolysaccharidosis-like plus disease

Mucous membrane pemphigoid

Cicatricial pemphigoid · Mucosal pemphigoid

Mueller-Weiss syndrome

Mueller-Weiss osteonecrosis of the tarsal bone · Brailsford disease

Muenke syndrome

Muir-Torre syndrome

Multiple keratoacanthoma, Muir-Torre type

Mulibrey nanism

Muscle-liver-brain-eye nanism · MUL

Müllerian aplasia

Aplasia of the Müllerian ducts · Müllerian duct failure

Müllerian aplasia and hyperandrogenism

Müllerian duct failure and hyperandrogenism · WNT4 deficiency

Müllerian derivatives-lymphangiectasia-polydactyly syndrome

Urioste syndrome

Müllerian duct anomalies-limb anomalies syndrome

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 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