Rare Disease Library

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

Digitorenocerebral syndrome

DRC syndrome · Eronen-Somer-Gustafsson syndrome

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Double uterus-hemivagina-renal agenesis syndrome

Double uterus and obstructed hemivagina syndrome · OHVIRA syndrome

Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency

Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency · SOCS1-related autoinflammatory syndrome

Ectrodactyly-cleft palate syndrome

ECP syndrome

EEC syndrome

Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

EEC syndrome and related disorders

EEC syndrome and related syndrome · Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders

EEM syndrome

Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

EN1-related dorsoventral syndrome

ENDOVES · ENDOVE syndrome

Endocrine-cerebro-osteodysplasia syndrome

ECO syndrome

Erythrokeratodermia-cardiomyopathy syndrome

EKC syndrome

Familial isolated café-au-lait macules

Familial isolated CALSs · Multiple isolated café-au-lait spots

Febrile infection-related epilepsy syndrome

AERRPS · Acute encephalitis with refractory repetitive partial seizures

Feingold syndrome

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

Fried syndrome

Generalized resistance to thyroid hormone

Deafness-thyroid hormone resistance syndrome · Refetoff syndrome

GMS syndrome

Goniodysgenesis-intellectual disability-short stature syndrome

Gorlin-Chaudhry-Moss syndrome

Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome

GRACILE syndrome

Fellman disease · Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome

H syndrome

Hardikar syndrome

Cholestasis-pigmentary retinopathy-cleft palate syndrome · HDKR

HEC syndrome

Hydrocephalus-endocardial fibroelastosis-cataract syndrome

Hemiconvulsion-hemiplegia-epilepsy syndrome

HHE · HHE syndrome

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

HNF1B-related autosomal dominant tubulointerstitial kidney disease

Renal cysts and diabetes syndrome · HNF1B-MODY

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

HHH syndrome · ORNT1 deficiency

Hypertelorism-microtia-facial clefting syndrome

Bixler-Christian-Gorlin syndrome · HMC syndrome

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

4H syndrome

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome · Barakat syndrome

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

ICF syndrome

Immunodeficiency-centromeric instability-facial dysmorphism syndrome · Immunodeficiency-centromeric instability-facial anomalies syndrome

Idiopathic catatonia

Isolated catatonia · Isolated catatonic syndrome

Imagawa-Matsumoto syndrome

SUZ12-related overgrowth syndrome

Infantile-onset periodic fever-panniculitis-dermatosis syndrome

OTULIN-related autoinflammatory syndrome · OTULIN deficiency

Infection-related hemolytic uremic syndrome

Infection-related HUS

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

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

Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome

ARCN1-related syndrome

Iridocorneal endothelial syndrome

ICE syndrome

Isolated Joubert syndrome

CPD IV · Cerebelloparenchymal disorder IV

JMP syndrome

Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome

Joubert syndrome and related disorders

JSRD

KBG syndrome

Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome · ANKRD11-related disorder

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

KLHL7-related Bohring-Opitz-like syndrome

KLHL7-related BOS-like syndrome

KLHL7-related Crisponi/cold-induced sweating-like syndrome

KLHL7-related Crisponi-like syndrome

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

LAMA5-related multisystemic syndrome