Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
14q11.2 microdeletion syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
5 |
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
3 |
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
1 |
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
3 |
Sparse hair with short stature and skin anomaly syndrome |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
4 |
Smith Fineman Myers syndrome |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
2 |
Smith Fineman Myers syndrome |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
3 |
Short stature Brussels type (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
3 |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
8 |
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
3 |
Self-healing collodion baby (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
4 |
Acral self-healing collodion baby (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
4 |
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
3 |
Sparse hair with short stature and skin anomaly syndrome |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
3 |
Pyknoachondrogenesis (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
5 |
Shprintzen Goldberg craniosynostosis syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
6 |
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
3 |
Pyknoachondrogenesis (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
7 |
Spinocerebellar ataxia type 34 (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
5 |
BSG syndrome |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
3 |
BSG syndrome |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
4 |
BSG syndrome |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
5 |
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
4 |
Pelviscapular dysplasia |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
2 |
Stapes ankylosis with broad thumb and toe syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
5 |
Steatocystoma multiplex with natal tooth syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
4 |
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
6 |
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
3 |
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
4 |
Hadziselimovic syndrome |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
4 |
Hadziselimovic syndrome |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
6 |
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
4 |
Lethal faciocardiomelic dysplasia (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
3 |
Lethal faciocardiomelic dysplasia (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
5 |
Lethal omphalocele with cleft palate syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
10 |
Stapes ankylosis with broad thumb and toe syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
6 |
Hadziselimovic syndrome |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
5 |
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
3 |
Microcephalus with albinism and digital anomaly syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
7 |
Lelis syndrome |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
4 |
Late-onset junctional epidermolysis bullosa (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
3 |
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
5 |
Cleft palate with short stature and vertebral anomaly syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
4 |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
8 |
Microcephalus with albinism and digital anomaly syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
9 |
Microcephalus cleft palate syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
3 |
Disorder of sex development with intellectual disability syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
2 |
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
5 |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
6 |
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
3 |
Cleft palate with short stature and vertebral anomaly syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
3 |
Postaxial polydactyly type A (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
5 |
Postaxial polydactyly type B (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
5 |
Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
5 |
Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
6 |
Gingival fibromatosis with facial dysmorphism syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
2 |
X-linked intellectual disability Cabezas type (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
1 |
X-linked intellectual disability with plagiocephaly syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
4 |
X-linked mandibulofacial dysostosis (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
3 |
X-linked myopathy with excessive autophagy (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
1 |
Xeroderma pigmentosum and Cockayne syndrome complex (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
6 |
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
5 |
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
6 |
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
7 |
Xeroderma pigmentosum and Cockayne syndrome complex (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
4 |
Naxos disease |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
1 |
8q22.1 microdeletion syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
3 |
Absent thumb with short stature and immunodeficiency syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
4 |
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
4 |
Wilson Turner syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
2 |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
6 |
Renal dysplasia with limb defect syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
5 |
Van den Ende-Gupta syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
3 |
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
3 |
Tel Hashomer camptodactyly syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
4 |
Trigonocephaly with broad thumb syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
7 |
Trigonocephaly with broad thumb syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
8 |
Haim Munk syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
6 |
X-linked distal arthrogryposis multiplex congenita (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
3 |
Renal dysplasia with limb defect syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
4 |
Ulna fibula ray defect and brachydactyly syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
5 |
Chromosome Xq28 trisomy |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
3 |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
4 |
Temtamy syndrome |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
5 |
Autosomal dominant limb girdle muscular dystrophy type 1A (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
2 |
dystrophie musculaire des ceintures autosomique dominante type 1C |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
2 |
Autosomal dominant limb girdle muscular dystrophy type 1D (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
2 |
Autosomal dominant limb girdle muscular dystrophy type 1E (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
2 |
Autosomal dominant limb girdle muscular dystrophy type 1F (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
2 |
Autosomal dominant limb girdle muscular dystrophy type 1G (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
2 |
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
6 |
Van den Ende-Gupta syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
4 |
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
5 |
Temtamy syndrome |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
6 |
Haim Munk syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
4 |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
7 |
Tel Hashomer camptodactyly syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
5 |
Taurodontia with absent teeth and sparse hair syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
5 |
Timothy syndrome type 2 (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
2 |
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
3 |
Congenital anomaly of right ear (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Some |
1 |