Rare Disease Library

Oculodentodigital dysplasia

Oculo-dento-digital dysplasia · ODOD syndrome

46,XY complete gonadal dysgenesis

46,XY CGD · 46,XY pure gonadal dysgenesis

Angora hair nevus

Schauder syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Blepharospasm-oromandibular dystonia syndrome

Meige dystonia · Meige syndrome

Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome

Mehes syndrome

Ectodermal dysplasia-skin fragility syndrome

McGrath syndrome

Meckel syndrome

Dysencephalia splanchnocystica · Meckel-Gruber syndrome

MEHMO syndrome

X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome

Meigs syndrome

Demons-Meigs syndrome

MEND syndrome

Male EBP disorder with neurological defects

MEPAN syndrome

Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome · Autosomal recessive childhood-onset dystonia, DYT29 type

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

Ptosis-vocal cord paralysis syndrome

Tucker syndrome

Scheie syndrome

MPS1S · MPSIS

Schnitzler syndrome

Chronic urticaria with gammopathy · Chronic urticaria with macroglobulinemia

Trigonocephaly-short stature-developmental delay syndrome

Say-Meyer syndrome

Urban-Rogers-Meyer syndrome

Intellectual disability-short stature-hand contractures-genital anomalies syndrome · Prader-Willi habitus-osteopenia-camptodactyly syndrome