Members |
languageDialectCode |
typeId |
value |
Abruzzo Erickson syndrome |
en |
Attribution |
Inserm Orphanet |
Cleft palate with short stature and vertebral anomaly syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Cleft palate with stapes fixation and oligodontia syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Cleft palate, large ears, small head syndrome |
en |
Attribution |
Inserm Orphanet |
Cleidorhizomelic syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Coagulation factor XII-associated cold autoinflammatory syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Cochleosaccular degeneration and cataract syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Coenzyme A synthase protein associated neurodegeneration (disorder) |
en |
Attribution |
Inserm Orphanet |
Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Coiled-coil domain containing 115 congenital disorder of glycosylation (disorder) |
en |
Attribution |
Inserm Orphanet |
Coloboma of inferior eyelid (disorder) |
en |
Attribution |
Inserm Orphanet |
Coloboma of macula with brachydactyly type B syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Coloboma of superior eyelid |
en |
Attribution |
Inserm Orphanet |
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Colobomatous macrophthalmia with microcornea syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome |
en |
Attribution |
Inserm Orphanet |
Combined deficiency of factor V and factor VIII (disorder) |
en |
Attribution |
Inserm Orphanet |
Combined hamartoma of retina and retinal pigment epithelium |
en |
Attribution |
Inserm Orphanet |
Combined immunodeficiency due to CD3gamma deficiency (disorder) |
en |
Attribution |
Inserm Orphanet |
Combined immunodeficiency due to CD70 deficiency (disorder) |
en |
Attribution |
Inserm Orphanet |
Combined immunodeficiency due to FCHO1 deficiency |
en |
Attribution |
Inserm Orphanet |
Combined immunodeficiency due to GINS complex subunit 1 deficiency (disorder) |
en |
Attribution |
Inserm Orphanet |
Combined immunodeficiency due to OX40 deficiency |
en |
Attribution |
Inserm Orphanet |
Combined immunodeficiency due to RELA haploinsufficiency (disorder) |
en |
Attribution |
Inserm Orphanet |
Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency (disorder) |
en |
Attribution |
Inserm Orphanet |
Combined immunodeficiency due to calcium release activated calcium channel dysfunction (disorder) |
en |
Attribution |
Inserm Orphanet |
Combined immunodeficiency due to CARMIL2 deficiency |
en |
Attribution |
Inserm Orphanet |
Combined immunodeficiency due to caspase recruitment domain family member 11 protein deficiency (disorder) |
en |
Attribution |
Inserm Orphanet |
Combined immunodeficiency due to DOCK8 deficiency |
en |
Attribution |
Inserm Orphanet |
Combined immunodeficiency due to ITK deficiency |
en |
Attribution |
Inserm Orphanet |
Combined immunodeficiency due to lipopolysaccharide-responsive beige-like anchor protein deficiency (disorder) |
en |
Attribution |
Inserm Orphanet |
Combined immunodeficiency due to moesin deficiency (disorder) |
en |
Attribution |
Inserm Orphanet |
Combined immunodeficiency due to partial recombination-activating gene 1 deficiency (disorder) |
en |
Attribution |
Inserm Orphanet |
Combined immunodeficiency due to transferrin receptor deficiency (disorder) |
en |
Attribution |
Inserm Orphanet |
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Combined immunodeficiency, enteropathy spectrum |
en |
Attribution |
Inserm Orphanet |
Combined oxidative phosphorylation defect type 13 (disorder) |
en |
Attribution |
Inserm Orphanet |
Combined oxidative phosphorylation defect type 15 (disorder) |
en |
Attribution |
Inserm Orphanet |
Combined oxidative phosphorylation defect type 2 |
en |
Attribution |
Inserm Orphanet |
Combined oxidative phosphorylation defect type 21 |
en |
Attribution |
Inserm Orphanet |
Combined oxidative phosphorylation defect type 23 |
en |
Attribution |
Inserm Orphanet |
Combined oxidative phosphorylation defect type 24 |
en |
Attribution |
Inserm Orphanet |
Combined oxidative phosphorylation defect type 25 (disorder) |
en |
Attribution |
Inserm Orphanet |
Combined oxidative phosphorylation defect type 26 |
en |
Attribution |
Inserm Orphanet |
Combined oxidative phosphorylation defect type 27 |
en |
Attribution |
Inserm Orphanet |
Combined oxidative phosphorylation defect type 28 |
en |
Attribution |
Inserm Orphanet |
Combined oxidative phosphorylation defect type 29 |
en |
Attribution |
Inserm Orphanet |
Combined oxidative phosphorylation defect type 30 |
en |
Attribution |
Inserm Orphanet |
Combined oxidative phosphorylation defect type 39 |
en |
Attribution |
Inserm Orphanet |
Combined oxidative phosphorylation defect type 4 |
en |
Attribution |
Inserm Orphanet |
Combined oxidative phosphorylation defect type 5 (disorder) |
en |
Attribution |
Inserm Orphanet |
Combined oxidative phosphorylation defect type 7 (disorder) |
en |
Attribution |
Inserm Orphanet |
Combined oxidative phosphorylation defect type 8 (disorder) |
en |
Attribution |
Inserm Orphanet |
Combined oxidative phosphorylation defect type 9 (disorder) |
en |
Attribution |
Inserm Orphanet |
Combined pancreatic lipase and colipase deficiency |
en |
Attribution |
Inserm Orphanet |
Combined pituitary hormone deficiency genetic form (disorder) |
en |
Attribution |
Inserm Orphanet |
Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome |
en |
Attribution |
Inserm Orphanet |
Complete septate uterus (disorder) |
en |
Attribution |
Inserm Orphanet |
Complex lethal osteochondrodysplasia (disorder) |
en |
Attribution |
Inserm Orphanet |
Component of oligomeric golgi complex 1 congenital disorder of glycosylation (disorder) |
en |
Attribution |
Inserm Orphanet |
COG2-related congenital disorder of glycosylation |
en |
Attribution |
Inserm Orphanet |
Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder) |
en |
Attribution |
Inserm Orphanet |
Component of oligomeric golgi complex 5 congenital disorder of glycosylation (disorder) |
en |
Attribution |
Inserm Orphanet |
Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder) |
en |
Attribution |
Inserm Orphanet |
Component of oligomeric golgi complex 7 congenital disorder of glycosylation (disorder) |
en |
Attribution |
Inserm Orphanet |
Component of oligomeric golgi complex 8 congenital disorder of glycosylation (disorder) |
en |
Attribution |
Inserm Orphanet |
Composite Hodgkin and non-Hodgkin lymphoma (disorder) |
en |
Attribution |
Inserm Orphanet |
Conductive deafness, ptosis, skeletal anomalies syndrome |
en |
Attribution |
Inserm Orphanet |
Cone dystrophy with supernormal rod response (disorder) |
en |
Attribution |
Inserm Orphanet |
Confetti-like atrophic macular lesions of skin (disorder) |
en |
Attribution |
Inserm Orphanet |
Congenital Horner syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Congenital abnormal retraction of eyelid (disorder) |
en |
Attribution |
Inserm Orphanet |
Congenital absence of half of thyroid (disorder) |
en |
Attribution |
Inserm Orphanet |
Congenital absence of innominate vein (disorder) |
en |
Attribution |
Inserm Orphanet |
Congenital absence of optic chiasma (disorder) |
en |
Attribution |
Inserm Orphanet |
Congenital accessory tissue of tricuspid valve |
en |
Attribution |
Inserm Orphanet |
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder) |
en |
Attribution |
Inserm Orphanet |
Congenital alpha-2-antiplasmin deficiency (disorder) |
en |
Attribution |
Inserm Orphanet |
Congenital amegakaryocytic thrombocytopenia (disorder) |
en |
Attribution |
Inserm Orphanet |
Congenital amyoplasia (disorder) |
en |
Attribution |
Inserm Orphanet |
Congenital analbuminemia (disorder) |
en |
Attribution |
Inserm Orphanet |
Congenital interventricular septum aneurysm |
en |
Attribution |
Inserm Orphanet |
Congenital ankylosis of temporomandibular joint (disorder) |
en |
Attribution |
Inserm Orphanet |
Congenital anomaly of fourth branchial cleft |
en |
Attribution |
Inserm Orphanet |
Congenital anomaly of second branchial cleft |
en |
Attribution |
Inserm Orphanet |
Congenital anomaly of third branchial cleft |
en |
Attribution |
Inserm Orphanet |
Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome |
en |
Attribution |
Inserm Orphanet |
Congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland (disorder) |
en |
Attribution |
Inserm Orphanet |
Congenital atresia of inferior vena cava without azygos continuation (disorder) |
en |
Attribution |
Inserm Orphanet |
Congenital autosomal recessive small-platelet thrombocytopenia (disorder) |
en |
Attribution |
Inserm Orphanet |
Congenital axonal neuropathy with encephalopathy |
en |
Attribution |
Inserm Orphanet |
Congenital azygos continuation of inferior vena cava (disorder) |
en |
Attribution |
Inserm Orphanet |
Congenital bile acid synthesis defect type 3 (disorder) |
en |
Attribution |
Inserm Orphanet |
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome |
en |
Attribution |
Inserm Orphanet |
Congenital cardiac diverticulum (disorder) |
en |
Attribution |
Inserm Orphanet |
Congenital cataract microcornea with corneal opacity |
en |
Attribution |
Inserm Orphanet |
Congenital cataract with ataxia and deafness syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |