Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cerebro-costo-mandibular syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cerebro-costo-mandibular syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Myotubular myopathy with type I atrophy |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Coronary orifice abnormally high |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital rectovestibular fistula |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare developmental defect during embryogenesis characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Mullerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords at crest ventricular septum (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare, genetic form of pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy that manifests clinically with uncoordinated sucking and swallowing, and generalized clonus in the neonate. In early childhood, spasticity, chorea/dyskinesia, seizures and progressive microcephaly develop. Voluntary motor development is lacking. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Double eyebrow |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Incomplete ossification of centrum of cervical vertebra |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital rectocloacal fistula |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Severe autosomal recessive muscular dystrophy of childhood - North African type |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Congenital abnormality of left atrioventricular valve chordae tendinae in double inlet ventricle (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital anomalies of eyelid, lacrimal system and orbit |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
An extremely rare chondrodysplastic malformation syndrome characterised by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
An extremely rare chondrodysplastic malformation syndrome characterised by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
An extremely rare chondrodysplastic malformation syndrome characterised by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
An extremely rare chondrodysplastic malformation syndrome characterised by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
A rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Congenital calculus of kidney |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare developmental defect during embryogenesis characterized by premature closure of metopic sutures and/or other sutures, short stature, and developmental delay. Dysmorphic features include trigonocephaly, metopic ridge, narrow forehead, bitemporal narrowing, arched eyebrows, hypotelorism, deep-set eyes, epicanthal folds, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (e.g. brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Thoracolumbar spina bifida without hydrocephalus - closed |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Congenital hypoplasia of nasal septum |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Intracardiac location of anomalous pulmonary venous connection to coronary sinus (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Venous-lymphatic malformation |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Myelomeningocele co-occurrent with hydrocephalus (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Myelomeningocele co-occurrent with hydrocephalus (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Myelomeningocele co-occurrent with hydrocephalus (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Myelomeningocele co-occurrent with hydrocephalus (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare syndromic agammaglobulinaemia characterised by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinaemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare syndromic agammaglobulinaemia characterised by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinaemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
A rare syndromic agammaglobulinaemia characterised by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinaemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Sclerosteosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare primary bone dysplasia due to matrilin-3 variants and characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Associates gingival fibromatosis with dental abnormalities including generalized thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications and delay of tooth eruption. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Pulmonary venous confluence in direct proximity to left atrium (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Pyknodysostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Early onset myopathy with fatal cardiomyopathy (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Incomplete ossification of talus |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Pericarditis secondary to Mulibrey nanism (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Cervical rib |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Ectodermal dysplasia with tooth-sweating defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
syndrome d'Ehlers-Danlos type vasculaire-like |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
syndrome d'Ehlers-Danlos type vasculaire-like |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Radial polydactyly Wassel 3 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Uterus acollis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
MEDNIK-Syndrom |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
MEDNIK-Syndrom |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Axillary freckling due to neurofibromatosis (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Axillary freckling due to neurofibromatosis (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Mondini defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Amelogenesis imperfecta, hypoplastic type with microdontia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Trifid pelvis of kidney |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterized by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in two chromosome regions, one localized to chromosome 1 and the other to chromosome 14. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterized by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in two chromosome regions, one localized to chromosome 1 and the other to chromosome 14. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
Oesophageal atresia, stenosis and fistula |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Greenberg dysplasia (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Thanatophoric dysplasia, type 1 (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Metaphyseal chondrodysplasia, Schmid type |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Deformity of digit of hand due to amniotic band (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Oesophageal atresia with tracheo-oesophageal fistula |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
A rare metabolic liver disease characterized by progressive liver disease and early cirrhosis due to accumulation of toxic cholesterol metabolites, which are detectable in bile, plasma, and urine, in association with dental abnormalities such as general hypomineralization and enamel hypoplasia, as well as occurrence of supernumerary teeth. There have been no further descriptions in the literature since 1996. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Craniotabes |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital absence of forearm and hand |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Congenital absence of forearm and hand |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Congenital absence of forearm and hand |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Bipartite ossification of centrum of cervical vertebra |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Ruvalcaba syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Proximal femoral focal deficiency |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |