| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Tyrosinase-positive oculocutaneous albinism |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Tyrosinase-positive oculocutaneous albinism |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Thanatophoric dysplasia, type 1 (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Metaphyseal chondrodysplasia, Schmid type |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormal atrioventricular connection - biventricular |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormal number of aortic valve cusps |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Deformity of digit of hand due to amniotic band (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital anomaly of maxilla |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Ectopic cilia of eyelid |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Ectopic cilia of eyelid |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital absence of uterus |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Heterodymus |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Heterodymus |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital thickening of tarsal bone |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Aplasia of optic nerve (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital anomaly of aortic arch |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Oesophageal atresia with tracheo-oesophageal fistula |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Oesophageal atresia with tracheo-oesophageal fistula |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Oesophageal atresia with tracheo-oesophageal fistula |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital malformation syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| 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. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| 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. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Craniotabes |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Macrophthalmos |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Macrophthalmos |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Absent pulmonary trunk |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Agenesis of nerve (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Agenesis of carpals and metacarpals |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Agenesis of carpals and metacarpals |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital deformity of mitral valve annulus (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
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. |
Pathological process (attribute) |
True |
Pathological developmental process |
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. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Abnormal origin of left pulmonary artery |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Trilobed left lung |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A form of congenital muscular dystrophy characterized by a congenital to childhood onset of progressive proximal muscle weakness, joint contractures, and potential respiratory insufficiency in adulthood. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A form of congenital muscular dystrophy characterized by a congenital to childhood onset of progressive proximal muscle weakness, joint contractures, and potential respiratory insufficiency in adulthood. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital abnormal shape of testis (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital absence of pubis |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital absence of forearm and hand |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital absence of forearm and hand |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital absence of forearm and hand |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| A teratologic disorder associated with intrauterine exposure of phenobarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital luminal atresia of aortic arch between left common carotid artery and right common carotid artery (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital malformation of vitreous humour |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Ectopic tissue in lung |
Pathological process (attribute) |
True |
Pathological developmental process |
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. |
Pathological process (attribute) |
True |
Pathological developmental process |
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. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Bipartite ossification of centrum of cervical vertebra |
Pathological process (attribute) |
True |
Pathological developmental process |
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. |
Pathological process (attribute) |
True |
Pathological developmental process |
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. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| 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. |
Pathological process (attribute) |
True |
Pathological developmental process |
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. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Major systemic to pulmonary collateral artery supplying part of right lung |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Major systemic to pulmonary collateral artery supplying part of right lung |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Ruvalcaba syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Ruvalcaba syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Longitudinal deficiency of phalanges of hand |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Proximal femoral focal deficiency |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital atresia of ureter |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormal blue sclerae |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Common arterial trunk with aortic dominance (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Common arterial trunk with aortic dominance (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Diffuse hypoplasia of left ventricle (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Triplication of appendix |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Dyschondrosteosis and nephritis syndrome |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Dyschondrosteosis and nephritis syndrome |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital dysplasia of left lobe of lung co-occurrent with congenital vascular malformation (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital dysplasia of left lobe of lung co-occurrent with congenital vascular malformation (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Manus extensa |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Manus extensa |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Gorlin-Chaudhry-Moss syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Infracardiac location of anomalous pulmonary venous connection to patent ductus venosus (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Infracardiac location of anomalous pulmonary venous connection to patent ductus venosus (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Bilobed right lung |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Bilobed right lung |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Osteomesopycnosis |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Osteomesopycnosis |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Nevus anemicus |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Nevus anemicus |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Anomalous pulmonary venous drainage to superior vena cava |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Macrodactyly of toes - simple |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Aglossia-adactyly syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Aglossia-adactyly syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Levy-Hollister syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Transient tricuspid regurgitation of newborn |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Vascular ring with left aortic arch and right arterial duct arising from retroesophageal aortic diverticulum and aberrant right subclavian artery (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
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