Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Coffin-Siris syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Laurence-Moon syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Nutritional mental retardation |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Kabuki make-up syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Borjeson-Forssman-Lehmann syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Profound intellectual disability (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hyperphosphatasemia with intellectual disability (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Severe mental retardation (I.Q. 20-34) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Bardet-Biedl syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
de Barsey syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Moderate intellectual disability (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Rett syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Disorder of central nervous system due to xeroderma pigmentosum (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Borderline intellectual disability (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Marfanoid mental retardation syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Idiot savant |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mild mental retardation (I.Q. 50-70) (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mental retardation screening |
Has focus |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Family history: Mental retardation (situation) |
Associated finding |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Other specified mental retardation |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mental retardation NOS |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
[X]Other mental retardation |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
[X]Unspecified mental retardation |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Profound intellectual disability (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability with marfanoid habitus (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Savante syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Family history: Mental retardation (situation) |
Associated finding |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Family history: Mental retardation (situation) |
Associated finding |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Renpenning syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Pitt-Hopkins syndrome |
Has definitional manifestation |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual deficit-dystonia-dysarthria syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Snyder-Robinson syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
CASK related intellectual disability |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mowat-Wilson syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
McDonough syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
GMS syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
C syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
MORM syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Skeletal dysplasia with epilepsy and short stature syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Goldblatt Wallis syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Microcephaly with deafness and intellectual disability syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare syndromic intellectual disability characterised by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalised osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Trisomy 10p (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterised by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localised to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Harrod syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Female restricted epilepsy with intellectual disability syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
FRAXE intellectual disability syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
L1 syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Achalasia microcephaly syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability Atkin type (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Oro-facial digital syndrome type 9 (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability Zorick type |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Fried syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability, Seemanova type is characterized by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Syndromic X-linked intellectual disability type 11 (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability Shrimpton type |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability Siderius type (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability Stevenson type (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability Stocco Dos Santos type (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability Stoll type (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability Turner type (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability Van Esch type (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability Wilson type (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability Schimke type (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability Pai type |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability Miles Carpenter type (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability Cilliers type (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability Cantagrel type |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability Armfield type (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability Abidi type (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Pallister W syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
12q14 microdeletion syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Shprintzen Goldberg craniosynostosis syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Carpenter Waziri syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare genetic disease characterised by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991. |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability with cerebellar hypoplasia syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
syndrome de déficience intellectuelle liée à l'X-agénésie du corps calleux-quadriparésie spastique |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Pettigrew syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Syndromic X-linked intellectual disability type 7 (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Radioulnar synostosis with microcephaly and scoliosis syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spondyloepiphyseal dysplasia tarda Kohn type (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Smith Fineman Myers syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Branchioskeletogenital syndrome (disorder) |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Microcephalus with brachydactyly and kyphoscoliosis syndrome |
Is a |
False |
retard mental |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|