Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
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 |
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 |
3 |
Multiple anterior segment anomalies |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Atelosteogenesis type 2 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Atrioventricular septal defect - ventricular component |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital prolapse of urethra |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Bertolotti's syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Neonatal intestinal perforation co-occurrent and due to intestinal atresia (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital pontocerebellar hypoplasia type 5 (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Hypospadias and epispadias |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Dominant dystrophic epidermolysis bullosa, albopapular type |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Incomplete ossification of centrum of thoracic vertebra |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital muscular dystrophy |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
A rare X-linked, syndromic eye disorder characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Greither type of ectodermal dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Isolation of left common carotid artery (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Dermatofibrosis lenticularis disseminata |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Congenital hyperplasia of sebaceous glands of lip |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (including prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (including prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (including prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Erythrodermic lamellar ichthyosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Myelocele with hydrocephalus (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
Myelocele with hydrocephalus (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Osteochondrodysplasia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Congenital portal-systemic shunt |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Obstruction of right ventricular outflow tract due to aortico-left ventricular tunnel (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Congenital hypoplasia of cerebrum |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Constricting band of extremity (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Superior to inferior ventricular relationship (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Talon cusp |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Osseous syndactyly of toes first web space |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Incomplete ossification of tympanic anulus |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Holoanencephaly (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Sacral hemivertebra |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Bipartite ossification of sternebra |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Vascular ring with left aortic arch and right patent arterial duct (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Vascular ring with left aortic arch and right arterial duct arising from retroesophageal aortic diverticulum (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Autosomal recessive ocular albinism |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Accessory ossification center |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Vascular ring with left aortic arch to right descending aorta and right patent arterial duct (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Thoracic spina bifida with hydrocephalus - open |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Vascular ring with left aortic arch and retroesophageal right descending aorta and right arterial duct arising from aortic diverticulum and aberrant right subclavian artery (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Sacral spina bifida with hydrocephalus - open |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Infracardiac location of anomalous pulmonary venous connection with two descending veins (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Posterior lenticonus |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Congenital hernia of foramen of Morgagni |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital hernia of foramen of Morgagni |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and carp-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by diaphragmatic hernia, lung hypoplasia, ossification defect of the skull, and severe limb hypoplasia. Other clinical features may include, syndactyly, clinodactyly, extra spleen, absence of the femur or pelvic bone, partial intestinal malrotation, omphalocele and testicular atrophy. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by diaphragmatic hernia, lung hypoplasia, ossification defect of the skull, and severe limb hypoplasia. Other clinical features may include, syndactyly, clinodactyly, extra spleen, absence of the femur or pelvic bone, partial intestinal malrotation, omphalocele and testicular atrophy. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare systemic disorder characterised by vitreoretinal and macular degeneration, as well as occipital encephalocele. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Localized macrodontia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Infracardiac location of anomalous pulmonary venous connection to hepatic vein (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Ocular albinism |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Pachyonychia congenita type III of Schafer-Brunauer (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Ocular albinism-lentigines-deafness syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
A rare developmental defect during embryogenesis characterized by congenital lipomatous overgrowth, complex and progressive combined vascular malformations affecting the trunk, and epidermal nevi. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Congenital venous malformation of skin (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Ocular albinism, type I |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Fetal genitourinary abnormality (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Vascular ring with left aortic arch to right descending aorta and right arterial ligament (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
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. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Albinism co-occurrent with hematologic disorder (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Aland eye disease and ocular albinism |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Raised birthmark |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Vascular ring with left aortic arch and right arterial duct ligament arising from retroesophageal aortic diverticulum with aberrant right subclavian artery (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Lumbar spina bifida with hydrocephalus - open |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Pachyonychia congenita type II of Jackson-Lawler (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Familial digital arthropathy-brachydactyly is characterized by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Nasofrontal encephalocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Nasofrontal encephalocele |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Hydrencephalomeningocele |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Hydrencephalomeningocele |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Nasopharyngeal encephalocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Nasopharyngeal encephalocele |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Vascular ring with left aortic arch and right arterial duct arising from aberrant retroesophageal brachiocephalic artery (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Vascular ring with left aortic arch and retrotracheal right patent arterial duct (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |