Rare Disease Library

Fibrodysplasia ossificans progressiva

FOP · Myositis ossificans progressiva

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

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

Angelman 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

Arthrogryposis-renal dysfunction-cholestasis syndrome

ARC syndrome

Asherman 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 dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

Autosomal recessive spastic paraplegia type 21

Mast syndrome · SPG21

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

Blepharospasm-oromandibular dystonia syndrome

Meige dystonia · Meige syndrome

Blue rubber bleb nevus

Bean syndrome · BRBN

Brachymorphism-onychodysplasia-dysphalangism syndrome

BOD syndrome · Senior syndrome

Branchioskeletogenital syndrome

Elsahy-Waters syndrome · BSG syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Cancer-associated retinopathy

CAR syndrome · Paraneoplastic retinopathy

Cardiofaciocutaneous syndrome

CFC syndrome

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

Cataract-intellectual disability-hypogonadism syndrome

Martsolf syndrome

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Catel-Manzke syndrome

Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome · Index finger anomaly-Pierre Robin syndrome

Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

Maeda syndrome · CARASIL

Cerebrofacioarticular syndrome

Van Maldergem syndrome

CHAND syndrome

Baughman syndrome · CHANDS

Choroidal atrophy-alopecia syndrome

Moloney syndrome · Regional choroidal atrophy and alopecia

CK syndrome

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

Classic stiff person syndrome

Classic SPS · Classic stiff man syndrome

Cogan syndrome

Colobomatous macrophthalmia-microcornea syndrome

MACOM syndrome

Congenital central hypoventilation syndrome

CCHS · Ondine 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

CPE-related Prader-Willi-like syndrome

BDV syndrome · Blakemore-Durmaz-Vasileiou syndrome