| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| X-linked intellectual disability Wilson type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| X-linked intellectual disability Schimke type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| X-linked intellectual disability Pai type |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| X-linked intellectual disability Miles Carpenter type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| X-linked intellectual disability Cilliers type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| X-linked intellectual disability Cantagrel type |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| X-linked intellectual disability Armfield type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| X-linked intellectual disability Abidi type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Pallister W syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| 12q14 microdeletion syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Shprintzen Goldberg craniosynostosis syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Branchioskeletogenital syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| 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. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| X-linked intellectual disability with cerebellar hypoplasia syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| X-linked intellectual disability with cubitus valgus and dysmorphism syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Pettigrew syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Syndromic X-linked intellectual disability type 7 (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Radioulnar synostosis with microcephaly and scoliosis syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Spondyloepiphyseal dysplasia tarda Kohn type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Microcephaly-cardiomyopathy syndrome is characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Disorder of sex development with intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| 17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| DOORS syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Chromosome Xp11.3 microdeletion syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| X-linked intellectual disability with seizure and psoriasis syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| X-linked intellectual disability Cabezas type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| X-linked intellectual disability with plagiocephaly syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A very rare congenital genetic neurological disorder characterised by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Aniridia and intellectual disability syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare genetic syndromic intellectual disability characterised by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Brachymorphism with onychodysplasia and dysphalangism syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Cerebro-facio-thoracic dysplasia (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| CHIME syndrome is a rare ectodermal dysplasia syndrome characterised by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Cystic leucoencephalopathy without megalencephaly |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Cerebrooculonasal syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Filippi syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Fine Lubinsky syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Hair defect with photosensitivity and intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Hall Riggs syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Oliver syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Short stature with webbed neck and congenital heart disease syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Deafness and intellectual disability Martin Probst type syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterised by global developmental delay, mild intellectual disability, seizures, obesity, and dysmorphic facial features (including large, bulbous nose, prominent philtrum, wide mouth). Additional reported features are bilateral pes planus, scoliosis, and spina bifida occulta. Brain MRI may show mild ventricular dilatation. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Hypogonadism with mitral valve prolapse and intellectual disability syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Juberg Marsidi syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Lowry MacLean syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Scholte syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| MEDNIK-Syndrom |
Interprets |
False |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Kapur Toriello syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
| MEDNIK syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| MEHMO syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Oculocerebrofacial syndrome Kaufman type |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| syndrome d'Okamoto |
Interprets |
False |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Oro-facial digital syndrome type 10 |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Oro-facial digital syndrome type 5 |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Oro-facial digital syndrome type 8 |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Ossification anomaly with psychomotor developmental delay syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Severe X-linked intellectual disability Gustavson type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterised by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Congenital cataract with deafness and hypogonadism syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Cataract-hypertrichosis-intellectual disability syndrome is characterised by congenital cataract, generalised hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Intellectual disability, developmental delay, contracture syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Toriello Carey syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Skeletal dysplasia with intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
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