Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
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. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
Endosteal hyperostoses (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
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 |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Hyperosmolar coma due to type 1 diabetes mellitus (disorder) |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Hyperosmolar hyperglycemic coma due to diabetes mellitus without ketoacidosis (disorder) |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B4GALT7 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, and bowing of limbs. Additional features include the typical craniofacial gestalt (mid-face hypoplasia, round, flat face, proptosis and narrow mouth), hyperextensible skin that is soft, thin, translucent and doughy, delayed motor and/or cognitive development, characteristic radiographic findings (such as radio-ulnar synostosis, radial head subluxation or dislocation, metaphyseal flaring and osteopenia) and ocular abnormalities. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
Hyperosmolar coma due to type 2 diabetes mellitus (disorder) |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Lenz-Majewski hyperostosis syndrome |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
Worth disease |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Neutrophilic dermatosis (disorder) |
Has interpretation |
False |
Above reference range (qualifier value) |
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 |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Parastomal pyoderma gangrenosum (disorder) |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Dermatofibrosis lenticularis disseminata |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Hyperosmolar coma due to secondary diabetes mellitus |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Craniometadiaphyseal dysplasia |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
Osteomesopyknose |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
Diaphyseal medullary stenosis with bone malignancy (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
A rare skin disease belonging to the spectrum of autoinflammatory syndromes with the triad of pyoderma gangrenosum (PG), suppurative hidradenitis (SH) and acne. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
Bullous pyoderma gangrenosum |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
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. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
7 |
Excessive mobility of patella |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Increased carrying angle of elbow joint |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Neonatal osteosclerotic dysplasia (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Blomstrand dysplasia (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
A rare disorder defined by generalised osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. Mutations in the FAM20C gene have a causative role in lethal osteosclerotic bone dysplasia. The condition is transmitted in an autosomal recessive manner. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Marfanoid joint hypermobility syndrome |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Desmosterolosis (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Liver enzymes level above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Liver enzymes level above reference range due to cystic fibrosis (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Hypermobility of joint |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Diabetic ketoacidosis without coma |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Severe hyperglycemia due to diabetes mellitus (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Hyperosmolar non-ketotic state due to diabetes mellitus (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Diabetic ketoacidosis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Ketoacidosis due to type 2 diabetes mellitus (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Hyperglycemic crisis due to diabetes mellitus |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Hyperglycemia due to type 1 diabetes mellitus |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Hyperglycemia due to type 2 diabetes mellitus (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Diabetic ketoacidosis without coma |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Diabetic ketoacidosis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Ketoacidosis due to type 2 diabetes mellitus (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Hyperglycaemia due to diabetes mellitus |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Dyslipidemia with high density lipoprotein below reference range and triglyceride above reference range due to type 2 diabetes mellitus |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Malnutrition-related diabetes mellitus with ketoacidosis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Malnutrition-related diabetes mellitus with ketoacidosis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Ketoacidosis due to type 1 diabetes mellitus |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Ketoacidosis due to type 1 diabetes mellitus |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Lactic acidosis due to diabetes mellitus |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Ketoacidotic coma due to diabetes mellitus |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
Ketoacidotic coma due to diabetes mellitus |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
5 |
Ketoacidotic coma due to type 2 diabetes mellitus (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Ketoacidotic coma due to type 2 diabetes mellitus (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
5 |
Ketoacidotic coma due to type 1 diabetes mellitus (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Ketoacidotic coma due to type 1 diabetes mellitus (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Primary systemic amyloidosis associated with occult plasma cell dyscrasia |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Primary systemic amyloidosis associated with occult plasma cell dyscrasia |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
5 |
Amyloid light chain amyloidosis due to multiple myeloma (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Amyloid light chain amyloidosis due to multiple myeloma (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
5 |
Hyperosmolar coma due to type 1 diabetes mellitus (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Hyperosmolar coma due to type 2 diabetes mellitus (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Hyperosmolar non-ketotic state due to type 2 diabetes mellitus |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Hyperosmolarity due to drug induced diabetes mellitus |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Hyperosmolality due to uncontrolled type 1 diabetes mellitus (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Hyperosmolarity due to type 1 diabetes mellitus (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Hyperosmolar non-ketotic state due to diabetes mellitus (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Hyperosmolar non-ketotic state due to type 2 diabetes mellitus |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
Somogyi phenomenon |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
A rare, secondary glomerular disease characterized by proteinuria, dysproteinemias, nephrotic syndrome, and nodular glomerulopathy leading to renal failure, with or without extra-renal manifestations. The renal biopsy shows typical deposits of monoclonal immunoglobulins that do not show a fibrillar organization and are negative for Congo red staining. Associated signs and symptoms depend on the involvement of other organs, liver, heart, nerve fibers, gastrointestinal tract, or skin. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
A rare, secondary glomerular disease characterized by proteinuria, dysproteinemias, nephrotic syndrome, and nodular glomerulopathy leading to renal failure, with or without extra-renal manifestations. The renal biopsy shows typical deposits of monoclonal immunoglobulins that do not show a fibrillar organization and are negative for Congo red staining. Associated signs and symptoms depend on the involvement of other organs, liver, heart, nerve fibers, gastrointestinal tract, or skin. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Pulmonic stenosis and congenital nephrosis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
Hyperosmolar hyperglycemic coma due to diabetes mellitus without ketoacidosis (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Hyperosmolar hyperglycemic coma due to diabetes mellitus without ketoacidosis (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
High body weight (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Adiposogenital dystrophy (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Alstrom syndrome |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Steatopygia |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Mauriac's syndrome |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
Hypothalamic obesity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Hypothyroid obesity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Overdreven vægtstigning under graviditet |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Hypogonadal obesity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Hyperinsulinar obesity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Extreme obesity with alveolar hypoventilation |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
Body mass index 25-29 - overweight (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Body mass index 30+ - obesity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Overweight |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Android obesity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Gynaecoid obesity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Generalized obesity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Fat pad syndrome |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Morbid obesity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Localised adiposity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Central obesity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Peripheral obesity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
objektivt: vægt 10-20 % over idealvægt |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
objektivt: vægt mere end 20 % over idealvægt |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Hypertrophic obesity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Endogenous obesity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Obesity of endocrine origin |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Familial obesity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |