Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Lumbar spina bifida with hydrocephalus |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Anomalous pulmonary venous drainage to hepatic veins |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Transient mitral regurgitation of newborn |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Juvenile idiopathic generalised osteoporosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
A rare syndrome characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare syndrome characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Persistent thyroglossal duct |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Nager syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Female pseudohermaphroditism |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Encephalocele of orbit |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Generalized macrodontia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Beals auriculo-osteodysplasia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Omphalomesenteric duct cyst |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Muscle-eye-brain disease, congenital muscular dystrophy |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Incomplete ossification of centrum of sacral vertebra |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare primary bone dysplasia characterized by global developmental delay, hypotonia, ossification anomalies of the cranial vault, abnormalities of the long bones due to defective remodeling, thoracic deformity, and progressive osteopenia. Dysmorphic craniofacial features include microcephaly, hypertelorism, narrow mouth, cleft palate, and micrognathia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
A rare primary bone dysplasia characterized by global developmental delay, hypotonia, ossification anomalies of the cranial vault, abnormalities of the long bones due to defective remodeling, thoracic deformity, and progressive osteopenia. Dysmorphic craniofacial features include microcephaly, hypertelorism, narrow mouth, cleft palate, and micrognathia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Persistent aortic arch convolutions |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Basan syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Cervical spinal hydromeningocele |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Cervical spinal hydromeningocele |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Interrupted aortic arch between left common carotid and brachiocephalic artery |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Abnormal communication between pericardial sac and peritoneal cavity |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Multirooted tooth with divergent roots |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Pseudo-Hurler polydystrophy |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Rachischisis with hydrocephalus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Rachischisis with hydrocephalus |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Rachischisis with hydrocephalus |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Capillary-venous-lymphatic malformation |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Capillary-venous-lymphatic malformation |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Supernumerary cusp |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Aplasia of muscle |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Right ventricular outflow tract obstruction due to common atrioventricular valve (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized 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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized 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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Ectodermal dysplasia, syndactyly and pili torti |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Anodontia of permanent dentition (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Incomplete ossification of tibia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Hypogonadism with prune belly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Spondyloepimetaphyseal disorder |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Kallmann syndrome with cardiopathy is characterized by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Spina bifida |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital horizontal mandibular hypoplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Muscular ventricular septal defect in central trabecular septum |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Polyorchism |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Spondyloenchondrodysplasia with immune dysregulation |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Double kidney |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Progressive junctional epidermolysis bullosa (neurotrophic) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Multiple neurofibromas in neurofibromatosis (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Multiple neurofibromas in neurofibromatosis (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Diffuse hypoplasia of right ventricle |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterized by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterized by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Amelogenesis imperfecta, pigmented hypomaturation type (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Low assimilation pelvis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
An extremely rare genetic congenital heart disease characterized by the presence of atrial septal defect, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Enamel-renal syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Rud's syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Bent bone dysplasia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
A rare, rhizo-mesomelic dysplasia characterised by distinct facial features (flat midface, flat small nose, anteverted nares, low set ears, protuberant eyes, and small mouth with long upper lip), markedly short limbs with relatively normal hands and feet, short ribs with broad metaphyses and small bell-shaped thorax with protuberant abdomen. Vertebral bodies are flat, creating a distinctive pinched appearance in lateral radiographic views. Cleft palate, micrognathia, bifid tongue and brachyclinodactyly with some soft tissue syndactyly have been reported in few patients. It is mostly a neonatally lethal condition. Affected individuals who survive the neonatal period present with severe global developmental delay, severe skeletal dysplasia, high myopia and mild to moderate hearing loss. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Ectopic glial tissue |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Peutz-Jeghers syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Hypodontia and nail dysgenesis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cervical, vaginal and external female genital anomalies |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Myeloschisis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare genetic disease characterized by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |