Rare Disease Library

MASS syndrome

Mitral valve-aorta-skeleton-skin syndrome

Mayer-Rokitansky-Küster-Hauser syndrome

MRKH syndrome · Rokitansky syndrome

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

MPPH syndrome

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

Melkersson-Rosenthal syndrome

Melorheostosis with osteopoikilosis

MSBD syndrome · Mixed sclerosing bone dystrophy

MEND syndrome

Male EBP disorder with neurological defects

Mesomelic dwarfism-cleft palate-camptodactyly syndrome

Reardon-Hall-Slaney syndrome · Mesomelic dysplasia, Reardon type

Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome

MPPC syndrome

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

Microphthalmia-brain atrophy syndrome

MCOPS10 · MOBA syndrome

Mitchell Syndrome

MMEP syndrome

MCOPS8 · Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

MOMO syndrome

Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome · Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome

MORM syndrome

Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome

Mowat-Wilson syndrome

Hirschsprung disease-intellectual disability syndrome

MRCS syndrome

Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome

Multiple pterygium-malignant hyperthermia syndrome

Froster-Iskenius-Waterson-Hall syndrome · Malignant hyperthermia-arthrogryposis-torticollis syndrome

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Nelson syndrome

Null syndrome

PLP1 null syndrome · Pelizaeus-Merzbacher disease, null syndrome

Ocular anomalies-axonal neuropathy-developmental delay syndrome

Harel-Yoon syndrome

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

Orofaciodigital syndrome type 2

Mohr syndrome · OFD2

Pallister-Hall syndrome

Hypothalamic hamartoblastoma syndrome

Palmoplantar keratoderma-esophageal carcinoma syndrome

Bennion-Patterson syndrome · Howell-Evans syndrome

Patterson-Stevenson-Fontaine syndrome

Patterson-Stevenson syndrome · Split foot deformity-mandibulofacial dysostosis syndrome

Pearson syndrome

Pearson marrow-pancreas syndrome · PMPS

Pierson syndrome

Microcoria-congenital nephrosis syndrome

Plummer-Vinson syndrome

Kelly-Paterson syndrome · Sideropenic dysphagia

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Primary biliary cholangitis

Hanot syndrome · Primary biliary cirrhosis

Pseudoleprechaunism syndrome, Patterson type

Patterson syndrome · Patterson pseudoleprechaunism syndrome

Rabson-Mendenhall syndrome

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

Scimitar syndrome

Congenital pulmonary venolobar syndrome · Epibronchial right pulmonary vein syndrome

Sheldon-Hall syndrome

SSH · DA2B

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

Watson syndrome

Pulmonic stenosis with 'café-au-lait' spots

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Johnson syndrome