| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Emberger syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Hereditary lymphedema type I (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Hereditary lymphedema type II (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Hereditary lymphedema and yellow nails (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Cholestasis-edema syndrome, Norwegian type |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Distichiasis-lymphedema syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Male sexual precocity with adrenal hyperplasia (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Psychosocial short stature (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Male pseudohermaphroditism due to congenital adrenal hyperplasia (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Female pseudohermaphroditism due to congenital adrenal hyperplasia |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Pseudohermaphroditism due to congenital adrenal hyperplasia (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Bilateral congenital elevation of scapulae |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare primary bone dysplasia with increased bone density characterized by slowly progressive endosteal hyperostosis and osteosclerosis exclusively of the skull base and the calvaria, resulting in entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII. First symptoms often appear during the second decade of life and include disturbances in smell, vision, facial sensation and expression, hearing, and balance, as well as headaches due to increased ocular and intracranial pressure. After the fourth decade, radiological progression is minimal, although decreased intracranial volume can lead to death in severe cases. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare primary bone dysplasia with increased bone density characterized by slowly progressive endosteal hyperostosis and osteosclerosis exclusively of the skull base and the calvaria, resulting in entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII. First symptoms often appear during the second decade of life and include disturbances in smell, vision, facial sensation and expression, hearing, and balance, as well as headaches due to increased ocular and intracranial pressure. After the fourth decade, radiological progression is minimal, although decreased intracranial volume can lead to death in severe cases. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare genetic disease characterized by the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly, and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare genetic disease characterized by the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly, and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare genetic disease characterized by the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly, and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| A rare genetic disease characterized by the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly, and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| A rare genetic muscular dystrophy characterized by progressive muscle weakness in a scapulo-humero-peroneal and distal distribution, featuring wrist extensor weakness, finger and foot drop, scapular winging, mild facial weakness, contractures of the Achilles tendon, elbow, and shoulder, and diminished or absent deep tendon reflexes. A predilection for the upper extremities has been reported in some patients. Respiratory muscles are spared until late in the disease course. Age of onset, progression, and severity of the disease vary significantly between individuals. Muscle biopsy shows groups of atrophic type I fibers and increased internal nuclei. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hypotonia, cerebellar symptoms such as ataxia, spondyloepiphyseal dysplasia, and dysmorphic craniofacial features (including microcephaly, dolichocephaly, prominent ears, epicanthus, broad nasal bridge, long and flat philtrum, or small mouth). Additional reported manifestations are epilepsy, retinitis pigmentosa, and urogenital abnormalities, among others. Brain imaging may show cerebellar hypoplasia. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hypotonia, cerebellar symptoms such as ataxia, spondyloepiphyseal dysplasia, and dysmorphic craniofacial features (including microcephaly, dolichocephaly, prominent ears, epicanthus, broad nasal bridge, long and flat philtrum, or small mouth). Additional reported manifestations are epilepsy, retinitis pigmentosa, and urogenital abnormalities, among others. Brain imaging may show cerebellar hypoplasia. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hypotonia, cerebellar symptoms such as ataxia, spondyloepiphyseal dysplasia, and dysmorphic craniofacial features (including microcephaly, dolichocephaly, prominent ears, epicanthus, broad nasal bridge, long and flat philtrum, or small mouth). Additional reported manifestations are epilepsy, retinitis pigmentosa, and urogenital abnormalities, among others. Brain imaging may show cerebellar hypoplasia. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypoplastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypoplastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypoplastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Female adrenal virilization |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Primary lymphedema with systemic and visceral involvement |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Primary lymphoedema with systemic involvement |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Primary lymphoedema with visceral involvement |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Primary lymphedema due to syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare genetic neurological disorder characterized by infantile onset of progressive leukoencephalopathy, microcephaly, severe global developmental delay, and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex, seizures, dystonia, and hypomimia or amimia, as well as progressive chest deformities and contractures of large and hyperextensibility of small joints, among others. Thin corpus callosum is a prominent feature in brain imaging, in addition to white matter abnormalities consistent with leukoencephalopathy. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| A rare genetic neurological disorder characterized by infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare developmental defect with connective tissue involvement characterized by joint hyperextensibility and multiple dislocations of large joints, severe myopia, and short stature. Other common features include retinal detachment, iris and chorioretinal coloboma, kyphoscoliosis and other spine deformities, pectus carinatum, talipes equinovarus, and progressive hearing loss. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare developmental defect with connective tissue involvement characterized by joint hyperextensibility and multiple dislocations of large joints, severe myopia, and short stature. Other common features include retinal detachment, iris and chorioretinal coloboma, kyphoscoliosis and other spine deformities, pectus carinatum, talipes equinovarus, and progressive hearing loss. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
8 |
| A rare genetic disease characterised by abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity, resulting in generalised hypohidrosis, heat intolerance, salt-losing nephropathy, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesaemia, hypokalaemia, hypercalcaemia, and hypocalciuria. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare, syndromic intellectual disability characterized by developmental delay, speech apraxia, autism with stereotypies, intellectual disability and unspecific dysmorphic facial features. Seizures or isolated EEG abnormalities may also be associated. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare syndromic disorder with strabismus with characteristics of congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities among others. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare syndromic disorder with strabismus with characteristics of congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities among others. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Vertical retraction syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Vertical retraction syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital fibrosis of inferior rectus muscle (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Congenital fibrosis of inferior rectus muscle (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital kyphoscoliosis (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Ehlers-Danlos syndrome, hydroxylysine-deficient |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
7 |
| A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
7 |
| Congenital membrane of lacrimal punctum (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital corneal leucoma |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital deformity of bony orbit |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital expansion of orbit |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Ocular motor apraxia Cogan type (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital colobomatous cyst of orbit (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital colobomatous cyst of orbit (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital anophthalmos with orbital implant |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay and mild chondrodysplasia with short stature and abnormal growth plate morphology. Dysmorphic facial features are variable and may include hypertelorism, upslanting palpebral fissures, broad nose with broad nasal tip, and low-set, cup-shaped ears, among others. Autism spectrum disorder and neurologic abnormalities have also been reported. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay and mild chondrodysplasia with short stature and abnormal growth plate morphology. Dysmorphic facial features are variable and may include hypertelorism, upslanting palpebral fissures, broad nose with broad nasal tip, and low-set, cup-shaped ears, among others. Autism spectrum disorder and neurologic abnormalities have also been reported. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital combined bony and soft tissue deformity of orbit (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital combined bony and soft tissue deformity of orbit (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital complete absence of nasolacrimal drainage system (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital contraction of orbit |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare, genetic, primary lipodystrophy syndrome characterized by severe developmental delay and intellectual disability, hypertonia, hyperreflexia, microcephaly, tightly adherent skin, an aged appearance, severe generalized lipodystrophy, and distinct facial dysmorphism which includes large prominent eyes, narrow nasal bridge, tented upper lip vermilion, an open mouth, and high-arched palate. Laboratory analysis of serum and urine are normal. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, and deep palmar and plantar grooves. Over time, fat pads may become less prominent and disappear. Distinct craniofacial dysmorphic features include a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth, and flat occiput/microcephaly/brachycephaly. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare mitochondrial disease characterized by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare genetic disease characterized by severe pre- and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, and hypertriglyceridemia developing in childhood, and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare, genetic, syndromic rod-cone dystrophy disorder characterized by psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalized rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium). |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| A rare, genetic leukodystrophy characterized by developmental delay, increased muscle tone leading later to spasticity, mild ataxia, nystagmus, dysarthria, intentional tremor, and mild intellectual disability. Brain imaging reveals supratentorial and infratentorial hypomyelination. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Congenital anomaly of retina of left eye (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital anomaly of right retina |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital abnormality of left lacrimal drainage system (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital abnormality of right lacrimal drainage system (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital abnormality of bilateral lacrimal drainage systems (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital abnormality of bilateral lacrimal drainage systems (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital vascular malformation of left orbit proper |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital malformation of blood vessel of right orbit proper (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital malformation of blood vessel of bilateral orbits proper (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Paraspadias |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Perineal hypospadias (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD). |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare disorder of ornithine metabolism characterized by global developmental delay, alopecia, macrocephaly, and dysmorphic facial features (including high and broad forehead, hypertelorism, ptosis, blepharophimosis, downslanting palpebral fissures, deep-set eyes, large ears, and retrognathia or high arched palate). Additional reported manifestations are sensorineural hearing loss, spasticity, hypotonia, hypoplastic nails, cryptorchidism, and clinodactyly, among others. Brain imaging may show white matter abnormalities, periventricular cysts, enlarged lateral ventricles, or prominent perivascular spaces. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of pancreatic agenesis and lobar/semilobar holoprosencephaly. Insulin-dependent diabetes mellitus and pancreatic exocrine deficiency manifest early after birth. Additional reported manifestations include intrauterine growth retardation, muscle weakness, seizures, mild intellectual disability and dysmorphic craniofacial features, and agenesis of the gallbladder. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of pancreatic agenesis and lobar/semilobar holoprosencephaly. Insulin-dependent diabetes mellitus and pancreatic exocrine deficiency manifest early after birth. Additional reported manifestations include intrauterine growth retardation, muscle weakness, seizures, mild intellectual disability and dysmorphic craniofacial features, and agenesis of the gallbladder. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare genetic neurological disorder characterized by pediatric onset of calcifying leukoencephalopathy and skeletal dysplasia. Reported structural brain abnormalities include agenesis of corpus callosum, ventriculomegaly, congenital hydrocephalus, pontocerebellar hypoplasia, periventricular calcifications, Dandy-Walker malformation and absence of microglia. Characteristic skeletal features include increased bone mineral density (reported in skull, pelvic bone and vertebrae), platyspondyly, and under-modeling of tubular bones with widened/radiolucent metaphysis and constricted/sclerotic diaphysis. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Single umbilical cord artery type II |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Single umbilical cord artery type I (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Single umbilical cord artery type III (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Single umbilical cord artery type IV (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare genetic primary lymphoedema characterised by unilateral or bilateral lower limb lymphoedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
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