Rare Disease Library

BOR syndrome

Branchiootorenal syndrome · Branchiootorenal spectrum disorder

3M syndrome

3-M syndrome · Yakut short stature syndrome

46,XY complete gonadal dysgenesis

46,XY CGD · 46,XY pure gonadal dysgenesis

Acropectorovertebral dysplasia

F syndrome

Aplasia cutis congenita-intestinal lymphangiectasia syndrome

Bronspiegel-Zelnick syndrome

Apparent mineralocorticoid excess

11-beta-hydroxysteroid dehydrogenase deficiency type 2 · Ulick syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Autosomal recessive spastic paraplegia type 21

Mast syndrome · SPG21

Blepharospasm-oromandibular dystonia syndrome

Meige dystonia · Meige syndrome

CK syndrome

X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

Costello syndrome

FCS syndrome · Faciocutaneoskeletal syndrome

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

Mehes syndrome

Dermochondrocorneal dystrophy

François syndrome

Diaphragmatic defect-limb deficiency-skull defect syndrome

Froster-Huch syndrome

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

Ear-patella-short stature syndrome

Meier-Gorlin syndrome

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

FILS syndrome

Fechtner syndrome

Alport syndrome with leukocyte inclusions and macrothrombocytopenia

Fibrous dysplasia/McCune-Albright syndrome

Fibrous dysplasia/McCune-Albright spectrum · FD/MAS spectrum

Fowler urethral sphincter dysfunction syndrome

Fowler-Christmas-Chapple syndrome · Fowler syndrome

Fragile X syndrome

FRAXA syndrome · FXS

Frank-Ter Haar syndrome

Ter Haar syndrome

Fraser syndrome

Cryptophthalmos-syndactyly syndrome

Fraser-like syndrome

Frasier syndrome

FRAXF syndrome

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

Fried syndrome

Fryns syndrome

Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome

Growth deficiency-brachydactyly-dysmorphism syndrome

Frias syndrome

Hypoplastic tibiae-postaxial polydactyly syndrome

Werner mesomelic syndrome · Hypoplastic tibia-polydactyly syndrome

Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome

Beck-Fahrner syndrome · TET3-related Beck-Fahrner syndrome

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

MOMES syndrome

Intellectual disability, Buenos-Aires type

Mutchinick syndrome

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

KLICK syndrome

Li-Fraumeni syndrome

Mammary-digital-nail syndrome

MDN syndrome · Onycho-digito-mammary syndrome

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP syndrome

Mandibulofacial dysostosis-microcephaly syndrome

MFDM syndrome · Mandibulofacial dysostosis, Guion-Almeida type

MASA syndrome

Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome

MASS syndrome

Mitral valve-aorta-skeleton-skin syndrome

Mayer-Rokitansky-Küster-Hauser syndrome

MRKH syndrome · Rokitansky 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

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

MPPH 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