Rare Disease Library

Diaphragmatic defect-limb deficiency-skull defect syndrome

Froster-Huch syndrome

3-methylglutaconic aciduria type 3

Autosomal recessive optic atrophy plus syndrome · Autosomal recessive optic atrophy type 3

3C syndrome

Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome

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

Antiphospholipid syndrome

Classic antiphospholipid syndrome · APLS

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Ascher syndrome

Blepharochalasis-double lip syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Autosomal dominant spastic paraplegia type 17

SPG17 · Silver syndrome

Autosomal recessive spastic paraplegia type 20

Childhood-onset spastic paraparesis-distal muscle wasting syndrome · SPG20

Axenfeld-Rieger syndrome

Axenfeld syndrome · Rieger syndrome

Bartter syndrome

Renal tubular normotensive hypokalemic alkalosis with hypercalciuria · Salt-losing tubular disorder, Henle's loop type

BOR syndrome

Branchiootorenal syndrome · Branchiootorenal spectrum disorder

C syndrome

OTCS · Opitz C trigonocephaly

CACH syndrome

Childhood ataxia with diffuse central nervous system hypomyelination · Leukoencephalopathy with vanishing white matter

Cardiospondylocarpofacial syndrome

Forney-Robinson-Pascoe syndrome · Mitral regurgitation-deafness-skeletal anomalies syndrome

Carpenter syndrome

ACPS2 · Acrocephalopolysyndactyly type 2

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Childhood disintegrative disorder

Heller syndrome · Dementia infantilis

CK syndrome

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

Costello syndrome

FCS syndrome · Faciocutaneoskeletal syndrome

Craniofrontonasal dysplasia-Poland anomaly syndrome

Webster-Deming syndrome

Deafness-enamel hypoplasia-nail defects syndrome

Heimler syndrome · Hearing loss-enamel hypoplasia-nail defects syndrome

Dermochondrocorneal dystrophy

François syndrome

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Donnai-Barrow syndrome

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

Double uterus-hemivagina-renal agenesis syndrome

Double uterus and obstructed hemivagina syndrome · OHVIRA syndrome

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome

FHEIG syndrome

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

FILS syndrome

Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome

FDLAB syndrome · Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome

Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome

Hamamy syndrome

Facial onset sensory and motor neuronopathy

FOSMN syndrome

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

FATCO syndrome

Hecht-Scott syndrome · Fibular aplasia-tibial campomelia-oligosyndactyly syndrome

Fechtner syndrome

Alport syndrome with leukocyte inclusions and macrothrombocytopenia

Felty syndrome

Splenomegaly-neutropenia-rheumatoid arthritis syndrome

Fibrous dysplasia/McCune-Albright syndrome

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

FLOTCH syndrome

Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome

FHONDA syndrome

Fowler urethral sphincter dysfunction syndrome

Fowler-Christmas-Chapple syndrome · Fowler syndrome

FOXG1 syndrome

FOXG1-related epileptic-dyskinetic encephalopathy

FOXP1 Syndrome

FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome

Fragile X syndrome

FRAXA syndrome · FXS

Fragile X-associated tremor/ataxia syndrome

FXTAS syndrome