| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Pilodental dysplasia, refractive errors syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Digital extensor muscle aplasia with polyneuropathy (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Ptosis and vocal cord paralysis syndrome (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Absent radius, anogenital anomalies syndrome (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Teebi Shaltout syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| An extremely rare developmental defect during embryogenesis malformation syndrome with congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (for example chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cleft palate, large ears, small head syndrome (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Grubben, De Cock, Borghgraef syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Conductive deafness, ptosis, skeletal anomalies syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Facial dysmorphism, conductive hearing loss, heart defect syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Congenital myopathy with myasthenic-like onset (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Connective tissue disorder due to lysyl hydroxylase-3 deficiency |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cerebrofacioarticular syndrome (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Familial progressive hyper and hypopigmentation |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Wiedemann Steiner syndrome (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| White forelock with malformations syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Craniodigital syndrome and intellectual disability syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Curly hair, acral keratoderma, caries syndrome (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterised by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Dislocation of hip and facial dysmorphism syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Macrocephaly and developmental delay syndrome (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Keipert syndrome (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Malan overgrowth syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Agenesis of corpus callosum and abnormal genitalia syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephalus, complex motor and sensory axonal neuropathy syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Oculoauricular syndrome Schorderet type (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Oro-facial digital syndrome type 1 |
Is a |
False |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Oro-facial digital syndrome type 14 (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Neonatal Marfan syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia disorder characterized by three distinct phenotypes, the first phenotype; patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities. The second phenotype; short-statured patients with predominantly truncal shortening, arm span exceeding height, dysplastic changes of hips and varying degrees of platyspondyly. The third phenotype; patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces, as well as sclerotic and cystic changes on imaging. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Renal hepatic pancreatic dysplasia (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Brachydactyly elbow wrist dysplasia (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Spondyloepimetaphyseal dysplasia anauxetic type |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Branchiootic syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Congenital myopathy with internal nuclei and atypical cores |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| King Denborough syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Intellectual disability, myopathy, short stature, endocrine defect syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolyte abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Familial thoracic aortic aneurysm and aortic dissection |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Rolandic epilepsy, speech dyspraxia syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Dyssegmental dysplasia Silverman Handmaker type (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare, genetic, multiple congenital anomalies syndrome characterised by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| X-linked cleft palate and ankyloglossia (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Radio-renal syndrome (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Trichoodontoonychial dysplasia |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Spondyloepimetaphyseal dysplasia with multiple dislocations |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionally, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the butterfly sign is characteristically observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterised by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (including long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A very rare syndrome characterised by progressive loss of bone, usually the carpal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Severe neonatal onset encephalopathy with microcephaly |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Ectodermal dysplasia syndactyly syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare genetic syndrome with characteristics of severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. There is evidence this disease is caused by homozygous mutation in the TUBA8 gene on chromosome 22q11. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Parietal foramina with clavicular hypoplasia |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare disorder of branched-chain amino acid metabolism with characteristics of childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. Caused by homozygous mutation in the BCKDK gene on chromosome 16p11. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Jawad syndrome (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Thrombocythemia with distal limb defect |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Autism spectrum disorder due to AUTS2 deficiency |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Facial dysmorphism, immunodeficiency, livedo, short stature syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| RAB18 deficiency |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare hereditary syndromic intellectual disability with characteristics of craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Postaxial polydactyly, dental, vertebral anomalies syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Thakker Donnai syndrome (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Macrosomia, microphthalmia, cleft palate syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Spondyloepimetaphyseal dysplasia Genevieve type (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Zechi Ceide syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare genetic X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features. Caused by hemizygous mutation in the NSDHL gene on chromosome Xq28. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Craniosynostosis and dental anomalies syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Autosomal recessive frontotemporal pachygyria (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome |
Is a |
False |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Roifman syndrome (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Intellectual disability with strabismus syndrome (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Mandibular hypoplasia, deafness, progeroid syndrome |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
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