| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Microphthalmos of right eye |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Microphthalmos of left eye |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital pit of optic disc (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital pit of optic disc of left eye (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital pit of optic disc of right eye |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital anterior subcapsular polar cataract |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Major aortopulmonary collateral artery |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| Congenital posterior subcapsular polar cataract |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital blepharophimosis of lower eyelid |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| Bilateral congenital aniridia of eyes |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Bilateral congenital aniridia of eyes |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Bilateral infantile esotropia of eyes |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| Bilateral infantile esotropia of eyes |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
| Accessory tarsal bone of left foot (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital muscular dystrophy type 1A |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare distal arthrogryposis syndrome with characteristics of multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature. There is evidence this disease is caused by heterozygous mutation in the MYH3 gene on chromosome 17p13. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) related overgrowth syndrome disease with characteristics of segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones and progresses in a distal to proximal patten. Congenital overgrowth is typically associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of varying degrees of intellectual disability, global developmental delay (notably with severe speech and language impairment), muscular hypotonia, and facial dysmorphism (such as broad forehead, bitemporal narrowing, upslanting palpebral fissures, low-set ears, flat nasal bridge, bulbous nose and variably macroglossia). Highly variable additional features include cardiac defects (including persistent foramen ovale, ventricular septal defects, tetralogy of Fallot), coordination problems, seizures, abnormal growth parameters (including microcephaly, low birth and postnatal weight) and brain morphology anomalies (such as ventriculomegaly and myelination defects). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| kongenit og udviklingsrelateret myasteni |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21. The disease has characteristics of pre and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum) behavioural problems and seizures may be associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21. The disease has characteristics of pre and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum) behavioural problems and seizures may be associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21. The disease has characteristics of pre and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum) behavioural problems and seizures may be associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare autosomal anomaly syndrome with a highly variable phenotype and typical characteristics of short length, joint abnormalities (for example dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (including microcephaly, a high prominent narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A syndromic craniosynostosis with a wide range of clinical findings even within a single family. Most have coronal synostosis however synostosis of other sutures, all sutures, macrocephaly without craniosynostosis, or a normal skull may be observed. Bilateral coronal synostosis usually results in brachycephaly with temporal bossing and facial symmetry. Craniofacial findings include widely spaced eyes, ptosis or proptosis, strabismus, and high arched palate or cleft lip/palate. Over 70% of patients have some form of hearing loss. Additional extracranial manifestations include otitis media, brachydactyly, broad toes, broad thumbs, clinodactyly, developmental delay and intellectual disability. Caused by mutation in the FGFR3 gene (4p16.3), encoding fibroblast growth factor receptor 3, which is required for normal skeleton development. Inheritance is autosomal dominant. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Syndrome with characteristics of the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular hyperpigmented dermopathy and a white forelock. It has been observed in a woman and her two daughters, whereas her son is unaffected. X-linked or autosomal dominant inheritance is proposed. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Syndrome with characteristics of the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular hyperpigmented dermopathy and a white forelock. It has been observed in a woman and her two daughters, whereas her son is unaffected. X-linked or autosomal dominant inheritance is proposed. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Oligodontia is a rare developmental dental anomaly with clinical features that include six or more missing teeth, lack of development of maxillary and mandibular alveolar bone height and reduced lower facial height. Variation in tooth morphology is also observed along with problems in tooth development, eruption and exfoliation. Possible causes of oligodontia include viral disease during pregnancy, genetic predisposition, metabolic imbalances, developmental abnormalities and environmental factors. Autosomal dominant mutations in PAX9 and MSX1 have been found in patients with molar non-syndromic oligodontia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Oligodontia is a rare developmental dental anomaly with clinical features that include six or more missing teeth, lack of development of maxillary and mandibular alveolar bone height and reduced lower facial height. Variation in tooth morphology is also observed along with problems in tooth development, eruption and exfoliation. Possible causes of oligodontia include viral disease during pregnancy, genetic predisposition, metabolic imbalances, developmental abnormalities and environmental factors. Autosomal dominant mutations in PAX9 and MSX1 have been found in patients with molar non-syndromic oligodontia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance with characteristics of clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Solitary infantile myofibromatosis (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Infantile myofibromatosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Aggressive systemic infantile myofibromatosis (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Multicentric infantile myofibromatosis (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital nuclear cataract of bilateral eyes (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital nuclear cataract of bilateral eyes (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital posterior subcapsular polar cataract of left eye (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital posterior subcapsular polar cataract of bilateral eyes (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital posterior subcapsular polar cataract of bilateral eyes (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital posterior subcapsular polar cataract of right eye (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Amyotonia congenita |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Amyotonia congenita |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital subaortic diverticulum (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital ectopia of lacrimal punctum (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital rhabdomyomatous mesenchymal hamartoma |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital diffuse lipomatosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital postural scoliosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Encephalocraniocutaneous lipomatosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital hydrocele of canal of Nuck (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Pendred's syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic systemic disease with the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (including long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and a raphe, broad or bifid uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| A rare genetic congenital disorder of glycosylation and glycogen storage disease with characteristics of a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity. Less common manifestations include malignant hyperthermia, rhabdomyolysis, and hypogonadotropic hypogonadism with delayed puberty. Caused by homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic isolated constitutional thrombocytopenia disease with characteristics of impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (for example easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction). Conferred by heterozygous mutation in the gene encoding the thromboxane A2 receptor (TBXA2R) on chromosome 19p13. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Chronic granulomatous disease, type II |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic congenital muscular alpha-dystroglycanopathy with brain and eye anomalies. The disorder has characteristics of a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. There is evidence the disease is caused by homozygous mutation in the DAG1 gene on chromosome 3p21. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
| Chronic granulomatous disease, type III |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic hematologic disease characterized by increased levels of serum hemoglobin, hematocrit and erythrocyte mass, associated with elevated or inappropriately normal erythropoietin serum levels, occurring in various members of a family and with autosomal dominant inheritance. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic mitochondrial DNA depletion syndrome with characteristics of severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus that develops into opsoclonus, lactic acidosis and hypoglycemia. Caused by homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies syndrome with characteristics of congenital heart defects (for example coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. There is evidence the disease is caused by compound heterozygous mutation in the WDPCP gene on chromosome 2p15. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| Syndrome with characteristics of the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular hyperpigmented dermopathy and a white forelock. It has been observed in a woman and her two daughters, whereas her son is unaffected. X-linked or autosomal dominant inheritance is proposed. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A very rare inborn error of mitochondrial fatty acid oxidation with characteristics of variable manifestations ranging from asymptomatic individuals to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy. In affected individuals manifestations include seizures, developmental delay (delayed sitting/walking and/or speech/social interaction), failure to grow with poor feeding and usually muscle weakness and hypotonia. Caused by mutations in the acyl-CoA dehydrogenase, C-2 to C-3 short chain ACADS gene (12q24.31) along with additional as yet unidentified precipitating factors. Inherited in an autosomal recessive manner. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic primary immunodeficiency disorder with characteristics of predisposition to recurrent life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes resulting from recessively inherited loss-of-function mutations in the CSF3R gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Severe achondrolasia with developmental delay and acanthosis nigricans |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
| An extremely rare genetic multisystemic disorder with characteristics of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. The disease can be associated with fever, joint pain, delayed bone age, growth failure, short adult stature, and development of flexion contractures. Other reported manifestations include failure to thrive, hepatomegaly, neutropenia, and transient cholestatic jaundice. The clinical course is chronic. Caused by a mutation in LPIN2 (18p11.31), which encodes phosphatidate phosphatase LPIN2 (Lipin-2), important in lipid metabolism. Follows an autosomal recessive pattern of inheritance. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Chronic granulomatous disease, type IIA |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Cervikalt hydromyelocele |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| Lumbalt hydromyelocele |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic overgrowth syndrome characterised by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumour. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behaviour. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic coagulation disorder with characteristics of a tendency to develop thrombosis resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others. There is evidence the disease is caused by heterozygous mutation in the HRG gene on chromosome 3q27. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic primary immunodeficiency disorder with characteristics of early-onset recurrent severe bacterial infections, granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and markedly reduced absolute neutrophil counts, resulting from recessively inherited mutations in the JAGN1 gene. Mild facial dysmorphism (such as triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coarctation of aorta, as well as bone and urogenital abnormalities may also be associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Periodontitis co-occurrent with Chédiak-Higashi syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
| A rare genetic primary immunodeficiency disorder with characteristics of recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in CXCR2. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Hypopigmentation-immunodeficiency disease |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic central nervous system malformation syndrome with characteristics of congenital progressive microcephaly, neonatal to infancy-onset of severe intractable seizures and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated. Caused by compound heterozygous mutation in the QARS gene on chromosome 3p21. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A very rare inborn error of metabolism disorder with a highly variable phenotype. Typical characteristics are neonatal to infancy-onset of seizures, psychomotor delay and abnormal muscle tone that may include hypo and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties and pulmonary hypertension. There is evidence the disease is caused by compound heterozygous mutation in the LIPT1 gene on chromosome 2q11. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Usher syndrome type 2 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| Chronic granulomatous disease, type I |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Torakalt hydromyelocele |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital arthrogryposis caused by teratogen (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic primary immunodeficiency disorder with characteristics of increased susceptibility to recurrent life-threatening bacterial infections in association with typically severe neutropenia in peripheral blood and bone marrow and a prominent ectatic superficial vein pattern, resulting from recessively inherited mutations in the G6PC3 gene. Cardiac malformations (for example atrial septal defects, patent ductus arteriosus, valvular defects), urogenital anomalies (including cryptorchidism), growth and developmental delay, facial dysmorphism (for example frontal bossing, upturned nose, malar hypoplasia), and intermittent thrombocytopenia are frequently associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Chronic granulomatous disease, type IV |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes. Caused by mutation in the GATA1 gene on chromosome Xp11. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Pseudovaginal perineoscrotal hypospadias |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic dermis elastic tissue disease with characteristics of redundant, over folded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern KwaZulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short stature and brachydactyly have been reported in a few patients with MJD. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare disorder characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
| Retinitis pigmentosa-deafness syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| Usher syndrome type 1 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| Chronic granulomatous disease, type IA |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic neurometabolic disorder with characteristics of severe progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the ASNS gene on chromosome 7q21. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Menkes kinky-hair syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| A rare genetic developmental defect during embryogenesis syndrome with characteristics of camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism and microcephaly. There have been no further descriptions in the literature since 1992. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Chronic granulomatous disease, type IVA |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic congenital limb malformation syndrome with characteristics of mild to severe short stature, brachydactyly and retinal degeneration (usually retinitis pigmentosa) associated with variable intellectual disability, developmental delay and craniofacial anomalies. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the CWC27 gene on chromosome 5q12. |
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 |
3 |
| Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
7 |
| Retinitis pigmentosa-deafness-ataxia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
FHIR