Rare Disease Library

VIPoma

Diarrheogenic islet cell tumor · Pancreatic cholera

3M syndrome

3-M syndrome · Yakut short stature syndrome

Androgen insensitivity syndrome

AIS · Androgen resistance syndrome

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

Johnson-Munson syndrome

Atypical Werner syndrome

Atypical progeroid syndrome

Autosomal dominant spastic paraplegia type 17

SPG17 · Silver syndrome

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

Choroidal atrophy-alopecia syndrome

Moloney syndrome · Regional choroidal atrophy and alopecia

Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome

Akesson syndrome

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

Gardner syndrome

Heiner syndrome

Cow's milk-induced pulmonary hypersensitivity syndrome

Hypoplastic tibiae-postaxial polydactyly syndrome

Werner mesomelic syndrome · Hypoplastic tibia-polydactyly syndrome

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

MOMES 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

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

Microphthalmia-brain atrophy syndrome

MCOPS10 · MOBA syndrome

Moebius syndrome

Möbius syndrome

MOMO syndrome

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

Monoamine oxidase A deficiency

Brunner syndrome

MORM syndrome

Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome

Morvan syndrome

Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome · Morvan fibrillary chorea

Mowat-Wilson syndrome

Hirschsprung disease-intellectual disability syndrome

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Nelson syndrome

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

Oliver syndrome

Postaxial polydactyly-intellectual disability syndrome

Orofaciodigital syndrome type 2

Mohr syndrome · OFD2

Pearson syndrome

Pearson marrow-pancreas syndrome · PMPS

PHAVER syndrome

Powell-Chandra-Saal syndrome

Pierson syndrome

Microcoria-congenital nephrosis syndrome

Plummer-Vinson syndrome

Kelly-Paterson syndrome · Sideropenic dysphagia

Postaxial acrofacial dysostosis

Miller syndrome · POADS

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Septo-optic dysplasia spectrum

De Morsier syndrome · SOD

Serpentine fibula-polycystic kidneys syndrome

Exner syndrome

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

Ulnar/fibula ray defect-brachydactyly syndrome

Morava-Mehes syndrome

VEXAS syndrome

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

Watson syndrome

Pulmonic stenosis with 'café-au-lait' spots

Weaver syndrome

EZH2-related overgrowth syndrome · Syndrome d'hypercroissance associé à EZH2

Werner syndrome

Adult progeria · WS

Wilson-Turner syndrome

WTS · X-linked intellectual disability-gynecomastia-obesity syndrome

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Johnson syndrome