| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| syndrome de Meacham |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Familial caudal dysgenesis (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| syndrome de lipomes naso-palpébraux-colobome |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Native American myopathy |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| syndrome de tétralogie de Fallot-petite taille-déficience intellectuelle |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Thymic, renal, anal, lung dysplasia syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Keratosis follicularis, dwarfism, cerebral atrophy syndrome |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Pericardial and diaphragmatic defect syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Neuroectodermal endocrine syndrome (disorder) |
est un(e) (attribut) |
False |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Neuroectodermal melanolysosomal disease (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Ligase 4 syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Polysyndactyly and cardiac malformation syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Craniolenticulosutural dysplasia (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| syndrome d'hémangiome périnéal, malformations génitales externes, lipomyéloméningocèle, anomalies vésicorénales, imperforation anale, acrochordon |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Auricular abnormality, cleft lip, ocular abnormality syndrome |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| McCune Albright syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| syndrome d'alopécie circonscrite-polydactylie |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Coxoauricular syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| syndrome marfanoïde type de Silva |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Hydrocephalus, tall stature, joint laxity syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Trigonocephaly, short stature, developmental delay syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Deafness, vitiligo, achalasia syndrome |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Van den Bosch syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Aniridia, renal agenesis, psychomotor retardation syndrome |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Megalocornea with intellectual disability syndrome |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Microcephalus, lymphedema, chorioretinopathy syndrome |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| 46,XX disorder of sex development with anorectal anomalies syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Thoraco-abdominal enteric duplication (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Goldenhar syndrome |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Cleft palate, large ears, small head syndrome |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Conductive deafness, ptosis, skeletal anomalies syndrome |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Short stature, wormian bones, dextrocardia syndrome |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Agenesis of corpus callosum and abnormal genitalia syndrome |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| syndrome oculo-auriculaire type Schorderet |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Pachygyria, intellectual disability, epilepsy syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Spina bifida and hypospadias syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Renal hepatic pancreatic dysplasia (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Branchiootic syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Intellectual disability Birk-Barel type |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Intellectual disability, myopathy, short stature, endocrine defect syndrome |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| syndrome de Waardenburg (trouble) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| HIVEP2-related intellectual disability |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Alstrom syndrome |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Microcephalic primordial dwarfism of Toriello type (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Axial mesodermal dysplasia spectrum (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Lowe Kohn Cohen syndrome |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| X-linked cleft palate and ankyloglossia |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| 22q11.2 deletion syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Congenital deafness with labyrinthine aplasia, microtia and microdontia |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Pseudoleprechaunism syndrome Patterson type (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) |
est un(e) (attribut) |
True |
syndrome de malformations multisystémiques |
Inferred relationship |
Some |
|
FHIR