| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Nephrotic syndrome, diffuse mesangial proliferative glomerulonephritis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Nephrotic syndrome with proliferative glomerulonephritis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Nephrotic syndrome with membranous glomerulonephritis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Congenital nephrotic syndrome with evidence of an underlying congenital infection (e.g. syphilis, toxoplasmosis, rubella, hepatitis B). |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Nephrotic syndrome with membranoproliferative glomerulonephritis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Steroid-sensitive nephrotic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Steroid-resistant nephrotic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Nephrotic syndrome, minor glomerular abnormality |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Steroid-dependent nephrotic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Nephrotic syndrome, diffuse membranous glomerulonephritis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Congenital nephrotic syndrome with focal glomerulosclerosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Drash syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Nephrotic syndrome, diffuse endocapillary proliferative glomerulonephritis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Nephrotic syndrome due to type 2 diabetes mellitus |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Nephrotic syndrome, diffuse mesangiocapillary glomerulonephritis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Nephrotic syndrome in amyloidosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Nephrotic syndrome, diffuse crescentic glomerulonephritis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Finnish congenital nephrotic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Nephrotic syndrome associated with another disorder (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| A rare, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Nephrotic syndrome due to diabetes mellitus (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Nephrotic syndrome in malaria |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Sporadic idiopathic steroid-resistant nephrotic syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Nephrotic syndrome in polyarteritis nodosa |
Has interpretation |
True |
Below reference range |
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. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| 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. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| A rare hemolytic anemia characterized by a combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature. There is evidence the disease is caused by heterozygous mutation in the SLC2A1 gene on chromosome 1p34. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| A rare hemolytic anemia characterized by a combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature. There is evidence the disease is caused by heterozygous mutation in the SLC2A1 gene on chromosome 1p34. |
Has interpretation |
True |
Below reference range |
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. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Leigh syndrome with nephrotic syndrome |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
| A rare syndrome with combined immunodeficiency with characteristics of a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells. There is evidence the disease is caused by heterozygous mutation in the IKZF1 gene on chromosome 7p12. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| A rare syndrome with combined immunodeficiency with characteristics of a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells. There is evidence the disease is caused by heterozygous mutation in the IKZF1 gene on chromosome 7p12. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| A rare syndrome with combined immunodeficiency with characteristics of a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells. There is evidence the disease is caused by heterozygous mutation in the IKZF1 gene on chromosome 7p12. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| A rare syndrome with combined immunodeficiency with characteristics of a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells. There is evidence the disease is caused by heterozygous mutation in the IKZF1 gene on chromosome 7p12. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| 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. |
Has interpretation |
True |
Below reference range |
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. |
Has interpretation |
True |
Below reference range |
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. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| 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. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Hereditary thrombocytopenia with normal platelets |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| A rare genetic constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion-dependent. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| A rare genetic constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion-dependent. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| A rare genetic constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion-dependent. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| A rare genetic constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion-dependent. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Osteopetrosis - intermediate type (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Osteopetrosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Juvenile idiopathic generalized osteoporosis |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
| Spondyloocular syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Dysplasia with decreased bone density |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Transient infantile osteopetrosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| A rare genetic primary bone dysplasia with decreased bone density disorder with characteristics of childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype. There is evidence the disease can be caused by mutation in the PLS3 gene on chromosome Xq23. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| A rare congenital disorder of bone resorption characterised by generalised skeletal densification. Bone marrow failure, fractures and visual impairment are the classical features of the disease, which begins in early infancy or in fetal life. It results from the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure. It is accompanied by hepatosplenomegaly due to compensatory extramedullary hematopoiesis. The disease is heterogeneous. Over 50% of cases are due to mutations in the TCIRG1 gene and another 10% are due to mutations in the CLCN7 gene. A small number of patients have been described with mutations in the OSTM1 gene. Transmission is autosomal recessive. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| A rare genetic primary bone dysplasia with increased bone density disorder with characteristics of benign isolated calvarial thickening presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences and facial dysmorphism comprising a flat nasal root and short upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| A rare primary bone dysplasia with decreased bone density disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic calvarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Benign autosomal dominant osteopetrose |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
| A rare skeletal disorder characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Osteopetrosis with renal tubular acidosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Singleton-Merten syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Osteopetrosis - delayed type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Menkes kinky-hair syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| A rare genetic disease characterized by congenital oculocutaneous hypopigmentation, visual impairment, generalized osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| A rare hereditary developmental defect with connective tissue involvement and characteristics of cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| A rare genetic coenzyme Q10 deficiency with characteristics of sensorineural deafness and severe progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminaemia and oedema, leading to end-stage renal disease. Renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely seizures, ataxia and dysmorphic features have been described. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| 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. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| 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. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| A rare acquired immunodeficiency disease with characteristics of adult-onset absolute neutrophil counts less than 1.5 x 10^9/L on at least 3 occasions in a 3 month period that cannot be attributable to drugs or a specific genetic, infectious, inflammatory, autoimmune or malignant cause. Recurrent apthous stomatitis and a history of mild bacterial infections are typically associated. A benign outcome with a low rate of severe infections and no secondary malignancies is observed. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Acute nephrotic syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Neutropenic sepsis (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Pancytopenia caused by immunosuppressant |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Pancytopenia caused by immunosuppressant |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Pancytopenia caused by immunosuppressant |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Pancytopenia caused by immunosuppressant |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Loss of hypoglycemic warning due to diabetes mellitus |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Somogyi phenomenon |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
| Hypoglycaemic unawareness due to type 1 diabetes mellitus |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Nocturnal hypoglycemia due to diabetes mellitus |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Hypoglycaemia due to diabetes mellitus |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Midpelvic contraction |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Contracted pelvis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| generel bækkenforsnævring, barn født |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
| Generel bækkenforsnævring med prænatalt problem |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
| Inlet contraction of pelvis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| forsnævring af bækkenudgang med prænatalt problem |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
| Congenital contracted pelvis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| forsnævring af bækkenudgang, barn født |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
| Geroderma osteodysplastica |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Hyperphosphatasemia tarda |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Pyknodysostosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Sclerosteosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Outlet contraction of pelvis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Hypoglycemia unawareness due to type 2 diabetes mellitus |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Endosteal hyperostoses (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Syndrome with characteristics of congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy and dysarthria. It is appears to be transmitted as an autosomal recessive trait. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Insulin reactive hypoglycemia due to type 2 diabetes mellitus (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Lenz-Majewski hyperostosis syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Worth disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
FHIR