Rare Disease Library

Primary progressive aphasia

Mesulam syndrome · PPA

21q deletion syndrome

21q- syndrome · Partial 21q monosomy

3C syndrome

Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

3MC syndrome

Malpuech-Michels-Mingarelli-Carnevale syndrome · Craniofacial-ulnar-renal syndrome

46,XX testicular difference of sex development

46,XX testicular DSD · De la Chapelle syndrome

46,XY complete gonadal dysgenesis

46,XY CGD · 46,XY pure gonadal dysgenesis

47,XYY syndrome

Jacobs syndrome · Double Y syndrome

Acropectorovertebral dysplasia

F syndrome

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

AMME complex · AMME syndrome

Androgen insensitivity syndrome

AIS · Androgen resistance syndrome

ANE syndrome

Alopecia-progressive neurological defect-endocrinopathy syndrome

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

AEC syndrome · Hay-Wells syndrome

Anterior maxillary protrusion-strabismus-intellectual disability syndrome

MRAMS syndrome

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Aplastic anemia-intellectual disability-dwarfism syndrome

AMeD syndrome

Arthrogryposis-renal dysfunction-cholestasis syndrome

ARC syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency

AD-HIES due to STAT3 deficiency · Autosomal dominant HIES due to STAT3 deficiency

Autosomal recessive spastic paraplegia type 21

Mast syndrome · SPG21

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

Blepharophimosis-intellectual disability syndrome, Ohdo type

BMRS, Ohdo type · Blepharophimosis syndrome, Ohdo type

Blepharospasm-oromandibular dystonia syndrome

Meige dystonia · Meige syndrome

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

BOR syndrome

Branchiootorenal syndrome · Branchiootorenal spectrum disorder

Brachymorphism-onychodysplasia-dysphalangism syndrome

BOD syndrome · Senior syndrome

Branchioskeletogenital syndrome

Elsahy-Waters syndrome · BSG syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome

Pericarditis-arthropathy-camptodactyly syndrome · Arthropathy-camptodactyly syndrome

Cancer-associated retinopathy

CAR syndrome · Paraneoplastic retinopathy

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

PHD syndrome · Polyvalvular heart disease syndrome

Cardiofaciocutaneous syndrome

CFC syndrome

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

Maeda syndrome · CARASIL

Choroidal atrophy-alopecia syndrome

Moloney syndrome · Regional choroidal atrophy and alopecia

Chronic intestinal pseudoobstruction syndrome

CIPO · CIP syndrome

CK syndrome

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

Colobomatous macrophthalmia-microcornea syndrome

MACOM syndrome

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

Congenital insensitivity to pain syndrome, Marsili type

Marsili syndrome

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

SIFD syndrome

Corneodermatoosseous syndrome

CDO syndrome · Stern-Lubinsky-Durrie syndrome

Costello syndrome

FCS syndrome · Faciocutaneoskeletal syndrome

CPE-related Prader-Willi-like syndrome

BDV syndrome · Blakemore-Durmaz-Vasileiou syndrome

Craniosynostosis-anal anomalies-porokeratosis syndrome

CAP syndrome · CDAGS syndrome

Deafness with labyrinthine aplasia, microtia, and microdontia

Hearing loss with labyrinthine aplasia, microtia, and microdontia · LAMM syndrome

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

Mehes syndrome