| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare syndromic, inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Cleft hard and soft palate with left cleft lip and left alveolar process of maxilla (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| Congenital deformity of left lower limb (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital deformity of right clavicle (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Bilateral congenital deformity of lower limbs |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Bilateral congenital deformity of lower limbs |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Bilateral congenital deformity fingers |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Bilateral congenital deformity fingers |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital deformity of left clavicle (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital deformity of right finger |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital deformity of right upper limb (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital deformity of left finger |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital absence of right hand |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital bilateral short Achilles tendons (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital bilateral short Achilles tendons (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
| Congenital deformity of right lower limb |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare, severe disorder of urea cycle metabolism typically characterized by either a neonatal onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| Congenital bilateral short Achilles tendons (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies characterized by deafness and defects in neural crest-derived structures, including pigmentation anomalies of the eyes, hair, and skin. Four clinical phenotypes are associated with the term Waardenburg syndrome (WS). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Peripheral demyelinating neuropathy-central dysmyelinating leucodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterised by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Peripheral demyelinating neuropathy-central dysmyelinating leucodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterised by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
| Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| Adult type polycystic kidney disease type 2 (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital arteriovenous malformation of right lower limb (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Adult type polycystic kidney disease type 1 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Autosomal dominant polycystic kidney disease in childhood |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital anomaly of cardiac chamber (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital arteriovenous malformation of left lower limb |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare, genetic, renal tubular disease characterized by progressive outgrowths of fluid-filled cysts from the renal epithelium, which can manifest with hematuria, urinary tract infections, hypertension, and abdominal or flank pain. The slowly progressive loss of kidney function may evolve to end stage kidney disease (ESKD). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A severe disease with onset in infancy primarily associated with brain dysfunction combined with muscle weakness. Symptoms include hypotonia, failure to thrive, delayed development of mental and motor skills, severely impaired speech development, seizures, movement abnormalities, microcephaly and cerebral atrophy. All individuals with the disease have lactic acidosis. Also associated with congenital heart defects or arrhythmias, vision problems, hearing loss, hepatopathy and immune deficiency. Caused by mutation in the FBXL4 gene responsible for producing a protein found within mitochondria. Inherited in an autosomal recessive pattern. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A severe disease with onset in infancy primarily associated with brain dysfunction combined with muscle weakness. Symptoms include hypotonia, failure to thrive, delayed development of mental and motor skills, severely impaired speech development, seizures, movement abnormalities, microcephaly and cerebral atrophy. All individuals with the disease have lactic acidosis. Also associated with congenital heart defects or arrhythmias, vision problems, hearing loss, hepatopathy and immune deficiency. Caused by mutation in the FBXL4 gene responsible for producing a protein found within mitochondria. Inherited in an autosomal recessive pattern. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic autoinflammatory syndrome characterized by early-onset of repeated episodes of fever, nodular neutrophil-rich panniculitis, arthralgia, and lipodystrophy. Additional reported features include diarrhea, failure to thrive, lymphadenopathy, and vasculitis. Laboratory examination may reveal elevated serum C-reactive protein and leukocytosis with neutrophilia in the absence of infection. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| Cleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A form of constitutional sideroblastic anemia characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (including microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (especially speech) and mild dysmorphism (including micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterised by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (including microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (including triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodactyly, brachydactyly), café-au-lait patches and hypospadias. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability and mild dysmorphic features. Early symptoms include hypotonia, delayed development of motor skills, speech delay, hypertelorism, broad nasal bridge, and fingers with tapered ends. Other features include microcephaly, seizures, recurrent ear infections, strabismus, amblyopia and hyperopia. Behavioral problems such as hyperactivity, attention deficit disorder, aggression, anxiety and autism spectrum occur in some cases. Caused by mutations in the HIVEP2 gene leading to a shortage of functional HIVEP2 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo mutations in the gene. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability and mild dysmorphic features. Early symptoms include hypotonia, delayed development of motor skills, speech delay, hypertelorism, broad nasal bridge, and fingers with tapered ends. Other features include microcephaly, seizures, recurrent ear infections, strabismus, amblyopia and hyperopia. Behavioral problems such as hyperactivity, attention deficit disorder, aggression, anxiety and autism spectrum occur in some cases. Caused by mutations in the HIVEP2 gene leading to a shortage of functional HIVEP2 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo mutations in the gene. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (including microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (including facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Alstrom syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| A rare hereditary motor and sensory neuropathy characterised by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| A rare hereditary motor and sensory neuropathy characterised by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (including asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agenesis/dysplasia, abnormal external genitalia, cryptorchidism), as well as anal anomalies such as anal atresia and rectovesical fistula. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
| Hypertrophy of left kidney co-occurrent and due to congenital hypoplasia of right kidney |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Incomplete ossification of ilium |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Incomplete ossification of ischium |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| Incomplete ossification of pubis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| Lack of ossification of pubis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Incomplete ossification |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare, genetic, multiple congenital anomalies syndrome characterized by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare, genetic, multiple congenital anomalies syndrome characterized by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic male infertility due to oligozoospermia (number of sperm in the ejaculate inferior to 15 million/mL) resulting from a mutation in a single gene known to cause oligozoospermia. Sperm morphology may be normal. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
| Lack of ossification of ischium |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Dysplasia of left kidney |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Dysplasia of right kidney |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital left vesicoureterorenal reflux |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital left vesicoureterorenal reflux |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital right vesicoureterorenal reflux |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital right vesicoureterorenal reflux |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (including microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (including microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (including microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (including sloping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (including sloping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Maternal uniparental disomy of chromosome 6 is a uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
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