| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Congenital combined form cataract of left eye (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital combined form cataract of right eye (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare congenital anomaly of the inferior vena cava characterized by complete interruption of the vessel in which no direct continuity exists between the inferior vena cava and the azygos/hemiazygos system. Clinical manifestations depend on the variant drainage patterns or collaterals and include lower extremity deep vein thrombosis, thromboembolic attacks, leg swelling and pain, lower extremity varices, abdominal pain, intraabdominal varices, and hematochezia, among others. Additional venous abnormalities or cardiac malformations are frequently present. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare disorder of the anterior segment of the eye characterized by the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia, and secondary angle-closure glaucoma. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare disorder of the anterior segment of the eye characterized by the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia, and secondary angle-closure glaucoma. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare inborn error of amino acid metabolism characterized by elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| phénylcétonurie par déficit en tétrahydrobioptérine |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| A rare, multiple congenital anomalies syndrome with cardiac involvement as a major feature characterized by QT prolongation, congenital heart defects, syndactyly, facial dysmorphism and neurodevelopmental features. There are three clinical phenotypes recognized, the classical types that present with a prolonged QT interval and either with (TS1) or without (TS2) cutaneous syndactyly of fingers and toes. The atypical form (ATS) causes multi-system health concerns but not necessarily with prolonged QT. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare, multiple congenital anomalies syndrome with cardiac involvement as a major feature characterized by QT prolongation, congenital heart defects, syndactyly, facial dysmorphism and neurodevelopmental features. There are three clinical phenotypes recognized, the classical types that present with a prolonged QT interval and either with (TS1) or without (TS2) cutaneous syndactyly of fingers and toes. The atypical form (ATS) causes multi-system health concerns but not necessarily with prolonged QT. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare multiple congenital anomalies syndrome with cardiac involvement as a major feature with characteristics of QT prolongation, congenital heart defects, syndactyly, facial dysmorphism and neurodevelopmental features. The atypical form (ATS) causes multi-system health concerns but not necessarily with prolonged QT. The disease can be recognized by any CACNA1C change (excluding the G406R change) that causes multi-system health concerns. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare multiple congenital anomalies syndrome with cardiac involvement as a major feature with characteristics of QT prolongation, congenital heart defects, syndactyly, facial dysmorphism and neurodevelopmental features. The atypical form (ATS) causes multi-system health concerns but not necessarily with prolonged QT. The disease can be recognized by any CACNA1C change (excluding the G406R change) that causes multi-system health concerns. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare congenital limb malformation syndrome characterized by a highly variable combination of congenital anomalies of the femur, fibula, and/or ulna, which can appear along with finger/toe anomalies at the ulnar/fibular side. Limb defects are asymmetrical, with upper limbs more often affected than lower limbs, and the right side of the body more often affected than the left. Abnormalities of the upper limb include amelia, hypoplasia of the humerus, humero-radial synostosis, and malformation of the ulna and ulnar rays. Abnormalities of the lower limb include absence of the proximal part of the femur and absence of the fibula. Axial skeleton, internal organs and intellectual function are usually normal. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare congenital limb malformation syndrome characterized by a highly variable combination of congenital anomalies of the femur, fibula, and/or ulna, which can appear along with finger/toe anomalies at the ulnar/fibular side. Limb defects are asymmetrical, with upper limbs more often affected than lower limbs, and the right side of the body more often affected than the left. Abnormalities of the upper limb include amelia, hypoplasia of the humerus, humero-radial synostosis, and malformation of the ulna and ulnar rays. Abnormalities of the lower limb include absence of the proximal part of the femur and absence of the fibula. Axial skeleton, internal organs and intellectual function are usually normal. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Situs inversus of optic disc |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital corneal leucoma |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Laryngeal cleft type 0 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Exstrophy-Epispadias Complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital deformity of upper limb |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic, skeletal muscle disease with characteristics of early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibres. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic, skeletal muscle disease with characteristics of early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibres. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic, skeletal muscle disease with characteristics of early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibres. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
| A rare glycogen storage disease characterized by fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications, and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys, and skeletal muscle involvement have been reported in some cases. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
| Congenital deformity of hand (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Bilateral congenital anomaly of upper limbs |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Bilateral congenital anomaly of upper limbs |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital anomaly of right upper limb (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital anomaly of left upper limb (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital deformity of shoulder (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital deformity of upper arm |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombin III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare otorhinolaryngological malformation characterized by the presence of a cyst, sinus or fistula occurring along the anterior border of the sternocleidomastoid muscle. Second branchial cleft fistulae and sinuses present with skin opening with chronic discharge and recurrent infections, whereas second branchial cleft cysts present as a painless, nontender, stable in size or slowly enlarging lateral neck masses. Cysts occasionally acutely increase in size during upper respiratory tract infection, leading to respiratory compromise, torticollis, and dysphagia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare otorhinolaryngological malformation characterized by the presence of a cyst, sinus or fistula occurring along the anterior border of the sternocleidomastoid muscle. Second branchial cleft fistulae and sinuses present with skin opening with chronic discharge and recurrent infections, whereas second branchial cleft cysts present as a painless, nontender, stable in size or slowly enlarging lateral neck masses. Cysts occasionally acutely increase in size during upper respiratory tract infection, leading to respiratory compromise, torticollis, and dysphagia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare otorhinolaryngeal malformation characterized by a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal abscess, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A third branchial cleft fistula passes superficial to both the superior and recurrent laryngeal nerves, which is the main difference in comparison to the fourth branchial cleft fistula. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare otorhinolaryngeal malformation characterized by a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal abscess, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A third branchial cleft fistula passes superficial to both the superior and recurrent laryngeal nerves, which is the main difference in comparison to the fourth branchial cleft fistula. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare otorhinolaryngeal malformation characterized by a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal abscess, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia, and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A fourth branchial cleft fistula passes deep to the superior laryngeal nerve but superficial to the recurrent laryngeal nerve, which is the main difference in comparison to the third branchial cleft fistula. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare otorhinolaryngeal malformation characterized by a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal abscess, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia, and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A fourth branchial cleft fistula passes deep to the superior laryngeal nerve but superficial to the recurrent laryngeal nerve, which is the main difference in comparison to the third branchial cleft fistula. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare otorhinolaryngological malformation characterized by a unilateral or bilateral fistula located at the corner of the mouth, where the vermillion border of the upper lip meets that of the lower lip. The lesion is lined by labial mucosa. It is potentially susceptible to infection. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterised by the premature fusion of the metopic suture. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterised by the premature fusion of the metopic suture. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare primary bone dysplasia characterized by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare difference of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by female or atypical external genitalia with reduced phallic size, hypospadias, incomplete fusion of the labioscrotal swellings, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare endocrine disease characterized by neonatal hypoglycemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma ACTH and cortisol levels in the absence of structural pituitary defects, and sometimes low partial growth hormone deficiency is associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare endocrine disease characterized by neonatal hypoglycemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma ACTH and cortisol levels in the absence of structural pituitary defects, and sometimes low partial growth hormone deficiency is associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital anomaly of left lower limb |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital anomaly of right lower limb (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Cardiac anomalies-heterotaxy syndrome is characterized by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare mitochondrial DNA depletion syndrome characterized by muscle weakness, and progressive, generalized hypotonia due to depletion of mtDNA in skeletal muscles. Clinical progression ranges from rapid and early fatal course due to respiratory failure, to slowly progressive myopathy over the course of childhood or even early adulthood. |
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 |
1 |
| MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Congenital malformation of blood vessel of bilateral orbits proper (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Incomplete cleft lip (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Meningoencephalocele of orbit (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Meningoencephalocele of orbit (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Meningoencephalocele of orbit (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Meningoencephalocele of orbit (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| Complete cleft lip (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital meningocele of orbit (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital meningocele of orbit (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Syndromic nanophthalmos due to Kenny-Caffey syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare, congenital, cerebellar malformation disorder characterised by complete or partial cerebellar vermis agenesis, with no other associated malformations or anomalies. Patients may be asymptomatic, although psychomotor delay, hypotonia and incoordination are usually associated. Additional variable manifestations include intellectual disability, oculomotor abnormalities (such as nystagmus, impaired smooth pursuit, impaired saccades, strabismus, ptosis, and oculomotor apraxia), retinopathy, abnormal visual evoked potentials, ataxia, episodic hyperpnoea, and delayed gait acquisition, as well as delayed speech and language development. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Rathke's pouch cyst |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Osteofibrous dysplasia is a rare, genetic primary bone dysplasia characterized by the presence of a benign, fibro-osseous, osteolytic tumor typically located in the tibia (occasionally the fibula, or both) and usually involving the anterior diaphyseal cortex with adjacent cortical expansion. It may on occasion be asymptomatic or may present with a palpable mass, pain, tenderness and/or anterior bowing of the tibia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| 14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| 14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic disease characterized by pre- and postnatal growth restriction, developmental delay, adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias, or cryptorchidism), thrombocytopenia and/or anemia, recurrent severe invasive infections, and enteropathy with chronic diarrhea. Myelodysplastic syndrome and dysmorphic features (including downslanting palpebral fissures, low-set and posteriorly rotated ears, anteverted nares, camptodactyly, and arachnodactyly, among others) may also be observed. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic disease characterized by pre- and postnatal growth restriction, developmental delay, adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias, or cryptorchidism), thrombocytopenia and/or anemia, recurrent severe invasive infections, and enteropathy with chronic diarrhea. Myelodysplastic syndrome and dysmorphic features (including downslanting palpebral fissures, low-set and posteriorly rotated ears, anteverted nares, camptodactyly, and arachnodactyly, among others) may also be observed. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare difference of sex development (DSD) characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Ovotesticular disorder of sex development |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare vascular anomaly characterized by absence of the hepatic segment of the inferior vena cava and presence of an enlarged azygos vein (or in rare cases hemiazygos vein, if there is a left-sided inferior vena cava) draining the venous blood from the caudal segments. The post-hepatic segment of the inferior vena cava is present, draining only the hepatic veins into the right atrium. Most patients remain asymptomatic, if the anomaly is isolated. Association with congenital heart disease and asplenia or polysplenia syndromes has been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare otorhinolaryngological malformation characterized by varying degrees of malformation of the inner ear associated with severe to profound congenital sensorineural hearing loss in the absence of cochlear nerve anomalies (hypoplasia or aplasia). Categorization of the malformation is based on the morphology of the cochlea, modiolus, and lamina cribrosa, which can range from normal development of these structures (with the malformation being limited to other structures of the inner ear) to their complete absence. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital vascular malformation of orbital region (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Persistent congenital anteversion of femur (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic neurological disorder characterized by childhood-onset dystonia with distinctive MRI changes in the basal ganglia, and optic atrophy developing either immediately or within a few years after the appearance of dystonia. Additional symptoms include chorea and other movement disorders, dysarthria, or nystagmus, among others. Motor disability progresses gradually, while cognitive function is relatively spared. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| A rare mitochondrial disease characterised by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare congenital myopathy characterized by early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures, and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital pseudopapilledema (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital atrioventricular septal defect (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare X-linked syndromic intellectual disability characterized by developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behavior (affable, eager to please), and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures, and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies, and abnormalities of the fingers and toes, among others. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare X-linked syndromic intellectual disability characterized by developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behavior (affable, eager to please), and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures, and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies, and abnormalities of the fingers and toes, among others. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A form of Ehlers-Danlos syndrome (EDS) with characteristics of extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and sometimes major complications due to visceral and vascular fragility. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
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