Rare Disease Library

Hypoplastic tibiae-postaxial polydactyly syndrome

Werner mesomelic syndrome · Hypoplastic tibia-polydactyly syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

Atypical Werner syndrome

Atypical progeroid syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Blepharospasm-oromandibular dystonia syndrome

Meige dystonia · Meige syndrome

BOR syndrome

Branchiootorenal syndrome · Branchiootorenal spectrum disorder

Cleidorhizomelic syndrome

Rhizomelic shortness with clavicular defect · Wallis-Zieff-Goldblatt syndrome

Craniomicromelic syndrome

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

Mehes syndrome

Double uterus-hemivagina-renal agenesis syndrome

Double uterus and obstructed hemivagina syndrome · OHVIRA syndrome

Gardner syndrome

Heiner syndrome

Cow's milk-induced pulmonary hypersensitivity syndrome

Hereditary acrokeratotic poikiloderma

Weary syndrome

Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

MOMES syndrome

Lethal hemolytic anemia-genital anomalies syndrome

Water-West syndrome

MAGIC syndrome

Mouth and genital ulcers-inflamed cartilage syndrome

Mammary-digital-nail syndrome

MDN syndrome · Onycho-digito-mammary syndrome

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP syndrome

May-Thurner syndrome

MTS · Cockett syndrome

Meacham syndrome

Meacham-Winn-Culler syndrome · Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome

Meckel syndrome

Dysencephalia splanchnocystica · Meckel-Gruber syndrome

MEDNIK syndrome

Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome · Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

MEGDEL syndrome

3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome · 3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome

MEHMO syndrome

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

Meigs syndrome

Demons-Meigs syndrome

Melhem-Fahl syndrome

MEND syndrome

Male EBP disorder with neurological defects

Menkes disease

Menkes kinky hair disease · MD

MEPAN syndrome

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

Mesomelia-synostoses syndrome

8q13 microdeletion syndrome · Del(8)q(13)

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

Monoamine oxidase A deficiency

Brunner syndrome

Mueller-Weiss syndrome

Mueller-Weiss osteonecrosis of the tarsal bone · Brailsford disease

Multiple endocrine neoplasia type 1

MEN1 · Wermer syndrome

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Postaxial acrofacial dysostosis

Miller syndrome · POADS

Primary progressive aphasia

Mesulam syndrome · PPA

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

Serpentine fibula-polycystic kidneys syndrome

Exner syndrome

Sturge-Weber syndrome

Encephalofacial angiomatosis · Encephalotrigeminal angiomatosis

Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome

Absent tibia-polydactyly syndrome · Werner mesomelic spectrum

Trigonocephaly-short stature-developmental delay syndrome

Say-Meyer syndrome

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

VIPoma

Diarrheogenic islet cell tumor · Pancreatic cholera

W syndrome

Pallister-W syndrome