| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare genetic dysostosis disorder with characteristics of brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic dysostosis disorder with characteristics of brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic syndromic deafness with characteristics of severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heterotopia) and in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated. Caused by homozygous or compound heterozygous mutation in the GPSM2 gene on chromosome 1p13. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital split right ear lobe |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital malformation of bilateral external ears (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital malformation of bilateral external ears (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital atresia of bilateral external ears (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital atresia of bilateral external ears (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism (brachycephaly resulting from craniosynostosis, frontal bossing, downslanting palpebral fissures, large and low-set ears, depressed nasal bridge, high-arched, wide palate, thin upper lip), impaired neurological development with intellectual disability, hypotonia, pyloric stenosis, pectus excavatum, bilateral cryptorchidism and short stature. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic developmental defect during embryogenesis disorder with characteristics of craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. There is evidence the disease can be caused by homozygous mutation in the IRX5 gene on chromosome 16q11.2. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic developmental defect during embryogenesis disorder with characteristics of craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. There is evidence the disease can be caused by homozygous mutation in the IRX5 gene on chromosome 16q11.2. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of dysmorphic facial features including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of dysmorphic facial features including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of dysmorphic facial features including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare developmental defect of the eye with characteristics of bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare developmental defect of the eye with characteristics of bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare developmental defect of the eye with characteristics of bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital split left ear lobe |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic primary bone dysplasia disorder with characteristics of severe pre and post-natal short stature, facial dysmorphism (including dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears) early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, brachydactyly and fifth-finger clinodactyly as well as a high-pitched voice are also associated. There is evidence the disease can be caused by homozygous mutation in the POC1A gene on chromosome 3p21. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic primary bone dysplasia disorder with characteristics of severe pre and post-natal short stature, facial dysmorphism (including dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears) early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, brachydactyly and fifth-finger clinodactyly as well as a high-pitched voice are also associated. There is evidence the disease can be caused by homozygous mutation in the POC1A gene on chromosome 3p21. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic primary bone dysplasia disorder with characteristics of severe pre and post-natal short stature, facial dysmorphism (including dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears) early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, brachydactyly and fifth-finger clinodactyly as well as a high-pitched voice are also associated. There is evidence the disease can be caused by homozygous mutation in the POC1A gene on chromosome 3p21. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| A rare genetic primary bone dysplasia disorder with characteristics of severe pre and post-natal short stature, facial dysmorphism (including dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears) early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, brachydactyly and fifth-finger clinodactyly as well as a high-pitched voice are also associated. There is evidence the disease can be caused by homozygous mutation in the POC1A gene on chromosome 3p21. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of micrognathia, short webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of micrognathia, short webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of micrognathia, short webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of micrognathia, short webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| A rare idiopathic skin disease with characteristics of widespread, congenital, superficial erosions and vesicles (often involving more than 75% of the body) which heal leaving scars with a supple, symmetrical, reticulated pattern, frequently resulting in cicatricial alopecia and hyperthermia and/or hypohidrosis. Nail anomalies, neurodevelopmental and ophthalmologic abnormalities, tongue atrophy and preterm birth, with or without history of chorioamnionitis, are commonly associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare idiopathic skin disease with characteristics of widespread, congenital, superficial erosions and vesicles (often involving more than 75% of the body) which heal leaving scars with a supple, symmetrical, reticulated pattern, frequently resulting in cicatricial alopecia and hyperthermia and/or hypohidrosis. Nail anomalies, neurodevelopmental and ophthalmologic abnormalities, tongue atrophy and preterm birth, with or without history of chorioamnionitis, are commonly associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Microstomia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic primary bone dysplasia with characteristics of disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay, markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed. There is evidence the disease is caused by homozygous inactivating mutations in the NKX3-2 gene on chromosome 4p15. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Pitt Hopkins-like syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| Pitt Hopkins-like syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| An extremely rare genetic congenital joint formation defect disorder with characteristics of unilateral or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities namely oligo-ectrosyndactyly may be associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| An extremely rare genetic congenital joint formation defect disorder with characteristics of unilateral or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities namely oligo-ectrosyndactyly may be associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| An extremely rare genetic congenital joint formation defect disorder with characteristics of unilateral or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities namely oligo-ectrosyndactyly may be associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare severe genetic autoinflammatory syndrome characterised by usually neonatal onset of generalised neutrophilic cutaneous pustulosis and severe recurrent multifocal aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features. Caused by homozygous mutation in the IL1RN gene on chromosome 2q14. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare severe genetic autoinflammatory syndrome characterised by usually neonatal onset of generalised neutrophilic cutaneous pustulosis and severe recurrent multifocal aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features. Caused by homozygous mutation in the IL1RN gene on chromosome 2q14. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare congenital limb malformation syndrome with characteristics of facial dysmorphism (high forehead, depressed nasal bridge, long philtrum, flat malar region, high arched palate), short stature and deformities of the hands and feet (small hands/feet, flexion contractures of the first three metacarpophalangeal joints, extension contractures of the thumbs at the interphalangeal joints, clawed toes, mild pes cavus). Additional features include neonatal hypotonia, thin and shiny skin of the hands/feet, ridged nails, dry and coarse hair, mild weakness of the orbicularis oculi muscles and occasional ventricular extrasystoles. Intellectual disability may be present. There have been no further descriptions in the literature since 1970. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare congenital limb malformation syndrome with characteristics of facial dysmorphism (high forehead, depressed nasal bridge, long philtrum, flat malar region, high arched palate), short stature and deformities of the hands and feet (small hands/feet, flexion contractures of the first three metacarpophalangeal joints, extension contractures of the thumbs at the interphalangeal joints, clawed toes, mild pes cavus). Additional features include neonatal hypotonia, thin and shiny skin of the hands/feet, ridged nails, dry and coarse hair, mild weakness of the orbicularis oculi muscles and occasional ventricular extrasystoles. Intellectual disability may be present. There have been no further descriptions in the literature since 1970. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additional features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| An extremely rare developmental defect during embryogenesis malformation syndrome with characteristics of bands of extensile tissue connecting the margins of the upper and lower eyelids in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| An extremely rare developmental defect during embryogenesis malformation syndrome with characteristics of bands of extensile tissue connecting the margins of the upper and lower eyelids in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital malformation of bilateral ears (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital malformation of bilateral ears (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Accessory bilateral tarsal navicular bones (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Accessory bilateral tarsal navicular bones (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Extrapulmonary subpleural pulmonary sequestration |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Single left ventricle |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Leri-Weill dyschondrosteosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
| Cranioectodermal dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Osteogenesis imperfecta with blue sclerae AND normal teeth |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Naso-maxillary dysostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare developmental defect during embryogenesis with characteristics of ventral, unilateral or bilateral protrusion of extraperitoneal fat, peritoneum and/or intra-abdominal organs through a defect in the spigelian fascia (spigelian hernia), associated with ipsilateral or bilateral undescended testis (usually found within or just beneath the hernial sac) in male neonates. The gubernaculum and/or inguinal canal may be absent. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare developmental defect during embryogenesis with characteristics of ventral, unilateral or bilateral protrusion of extraperitoneal fat, peritoneum and/or intra-abdominal organs through a defect in the spigelian fascia (spigelian hernia), associated with ipsilateral or bilateral undescended testis (usually found within or just beneath the hernial sac) in male neonates. The gubernaculum and/or inguinal canal may be absent. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare developmental defect during embryogenesis with characteristics of ventral, unilateral or bilateral protrusion of extraperitoneal fat, peritoneum and/or intra-abdominal organs through a defect in the spigelian fascia (spigelian hernia), associated with ipsilateral or bilateral undescended testis (usually found within or just beneath the hernial sac) in male neonates. The gubernaculum and/or inguinal canal may be absent. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Single right ventricle (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Lumbarized first sacral vertebra |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic orofacial clefting malformation syndrome with characteristics of severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphthalmia and hypertelorism. Frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region. There is evidence the disease is caused by homozygous mutation in the ALX1 gene on chromosome 12q21. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic orofacial clefting malformation syndrome with characteristics of severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphthalmia and hypertelorism. Frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region. There is evidence the disease is caused by homozygous mutation in the ALX1 gene on chromosome 12q21. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic orofacial clefting malformation syndrome with characteristics of severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphthalmia and hypertelorism. Frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region. There is evidence the disease is caused by homozygous mutation in the ALX1 gene on chromosome 12q21. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic orofacial clefting malformation syndrome with characteristics of severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphthalmia and hypertelorism. Frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region. There is evidence the disease is caused by homozygous mutation in the ALX1 gene on chromosome 12q21. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| A congenital differentiation of the fifth lumbar vertebra (L5) such that it takes on characteristics of a sacral vertebra. Though the sacralization is usually incomplete and limited to one side, it can be partial or complete on one or both sides of the sacrum |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Accessory bilateral ribs (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Accessory bilateral ribs (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A group of rare genetic developmental defect during embryogenesis disorders with the association of sensorineural deafness and onychodystrophy (for example absent/hypoplastic finger and toenails) as well as brachydactyly and finger-like thumbs. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A group of rare genetic developmental defect during embryogenesis disorders with the association of sensorineural deafness and onychodystrophy (for example absent/hypoplastic finger and toenails) as well as brachydactyly and finger-like thumbs. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A group of rare genetic developmental defect during embryogenesis disorders with the association of sensorineural deafness and onychodystrophy (for example absent/hypoplastic finger and toenails) as well as brachydactyly and finger-like thumbs. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A group of rare genetic developmental defect during embryogenesis disorders with the association of sensorineural deafness and onychodystrophy (for example absent/hypoplastic finger and toenails) as well as brachydactyly and finger-like thumbs. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
| A rare genetic lethal neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe generalized muscular hypotonia and central nervous system abnormalities (including cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces) in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported. The disease is caused by homozygous or compound heterozygous mutation in the SLC33A1 gene on chromosome 3q25. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic lethal neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe generalized muscular hypotonia and central nervous system abnormalities (including cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces) in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported. The disease is caused by homozygous or compound heterozygous mutation in the SLC33A1 gene on chromosome 3q25. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic lethal neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe generalized muscular hypotonia and central nervous system abnormalities (including cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces) in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported. The disease is caused by homozygous or compound heterozygous mutation in the SLC33A1 gene on chromosome 3q25. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| An extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (for example anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| An extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (for example anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Fronto-naso-ethmoidal dysostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Myelocele with hydrocephalus |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| Myelocele with hydrocephalus |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Interfrontal craniofaciosynostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Polycoria |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Spheno-frontal dysostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Jackson's membrane |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Capitate-hamate synostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Sacralization of lumbar vertebra |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Anomalous pulmonary venous drainage to superior vena cava |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Madelung's deformity |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Temporo-aural dysostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Scaphoid-lunate synostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Radioulnar synostosis of bilateral upper limbs |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| Radioulnar synostosis of bilateral upper limbs |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| A rare syndromic intellectual disability characterised by hypotonia, developmental delay, absent or severely delayed speech development, obstructive sleep apnoea, mild dysmorphic facial features and behavioural abnormalities. Epilepsy, ataxia and nystagmus have also been reported. Caused by heterozygous mutation in the AHDC1 gene on chromosome 1p36. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
FHIR