| Members |
languageDialectCode |
typeId |
value |
| Semicircular canal dehiscence syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| 22q11.2 deletion syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| 22q13.3 deletion syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Potocki-Shaffer syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Intellectual disability, alacrima, achalasia syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Intellectual disability, brachydactyly, Pierre Robin syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Intellectual disability, spasticity, ectrodactyly syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Intellectual disability, myopathy, short stature, endocrine defect syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Facial dysmorphism, cleft palate, loose skin syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Facial dysmorphism, conductive hearing loss, heart defect syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Chondroectodermal dysplasia with night blindness syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Spondyloperipheral dysplasia with short ulna syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Larsen-like osseous dysplasia, short stature syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| 8p23.1 duplication syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Xq12-q13.3 duplication syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| MECP2 duplication syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Rolandic epilepsy, speech dyspraxia syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Spina bifida and hypospadias syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Cleft palate, large ears, small head syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Generalized basaloid follicular hamartoma syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Hemiparkinsonism hemiatrophy syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Hyperinsulinism and hyperammonemia syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Hypotonia, speech impairment, severe cognitive delay syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Histiocytosis-lymphadenopathy plus syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Hartsfield syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Ichthyosis prematurity syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Partial androgen insensitivity syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Stiff skin syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Kandori fleck retina syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Dislocation of hip and facial dysmorphism syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Macrocephaly and developmental delay syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| White forelock with malformations syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Microcephalus, complex motor and sensory axonal neuropathy syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| 12q15q21.1 microdeletion syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Distal 17p13.3 microdeletion syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| 19p13.13 microdeletion syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| 1p31p32 microdeletion syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| 3q13 microdeletion syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| 9p13 microdeletion syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Proximal 16p11.2 microduplication syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| 16p11.2p12.2 microduplication syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| 17q12 microduplication syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| 20q11.2 microduplication syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Distal 22q11.2 microduplication syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| 2q23.1 microduplication syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| 7p22.1 microduplication syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Action myoclonus renal failure syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Distal monosomy 15q |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Odonto onycho dysplasia with alopecia syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Progressive external ophthalmoplegia, myopathy, emaciation syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Pachygyria, intellectual disability, epilepsy syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Spastic paraplegia, facial cutaneous lesion syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Wooly hair with palmoplantar keratoderma syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Hyperplastic polyposis syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutation (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| BAP1 tumor predisposition syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| X-linked lethal multiple pterygium syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Androgen resistance syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Malan overgrowth syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Conductive deafness, ptosis, skeletal anomalies syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Deafness, encephaloneuropathy, obesity, valvulopathy syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Lowe Kohn Cohen syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Trichodermodysplasia and dental alterations syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Trichodysplasia xeroderma syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Mosaic trisomy 10 syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Mosaic trisomy 12 syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Mosaic trisomy 14 syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Mosaic trisomy 15 syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Mosaic trisomy 16 syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Mosaic trisomy 17 syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Mosaic trisomy 2 syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Mosaic trisomy 20 syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Mosaic trisomy 22 syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Mosaic trisomy 3 syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Mosaic trisomy 4 syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Mosaic trisomy 5 syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Mosaic trisomy 7 syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Mosaic trisomy 9 syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| 14q partial distal trisomy syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |