| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Chédiak-Higashi syndrome |
Is a |
False |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Chronic granulomatous disease |
Is a |
False |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Hereditary lymphedema |
Is a |
False |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Acquired epidermolysis bullosa |
Is a |
False |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Wiskott-Aldrich syndrome |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Hypopigmentation-immunodeficiency disease |
Is a |
False |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Familial C3B inhibitor deficiency syndrome |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Hand-Schüller-Christians sygdom |
Is a |
False |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Adenosine deaminase deficiency (disorder) |
Is a |
False |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Purine-nucleoside phosphorylase deficiency |
Is a |
False |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| X-linked agammaglobulinemia |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| X-linked lymphoproliferative syndrome |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Storage disease of the lung |
Is a |
False |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms including mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors. |
Is a |
False |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Autosomal recessive severe combined immunodeficiency disease (disorder) |
Is a |
False |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Complement component deficiency |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Severe combined immunodeficiency disease |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Acatalasemia |
Is a |
False |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Chronic granulomatous disease (disorder) |
Is a |
False |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| familiær sea blue-histiocytose |
Is a |
False |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Triglyceride storage disease with ichthyosis |
Is a |
False |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Hereditary white blood cell disorder (disorder) |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| X-linked agammaglobulinemia with growth hormone deficiency |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Ataxia-telangiectasia syndrome |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Hereditary angioedema without abnormal C1 inhibitor levels or function. One type has been found mostly in females in which symptoms may be triggered by pregnancy or estrogen-containing oral contraceptives. Mechanisms include mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors. |
Is a |
False |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Microcephaly, normal intelligence and immunodeficiency |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Common variable immunodeficiency with autoantibodies to B- or T-cells (disorder) |
Is a |
False |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Common variable immunodeficiency with predominant abnormalities of B-cell numbers and functions |
Is a |
False |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Common variable immunodeficiency with predominant immunoregulatory T-cell disorders |
Is a |
False |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, developmental delay and intellectual disability, postnatal growth retardation, dysmorphic craniofacial features (including sloping forehead, beaked nose, large and protruding ears, micrognathia, high-arched palate, and craniosynostosis), immunologic abnormalities with transient hypogammaglobulinemia in infancy and defective chemotaxis leading to recurrent infections, as well as autoimmune/autoinflammatory phenomena. Skeletal anomalies and hypogonadism have also been reported. |
Is a |
False |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare syndromic agammaglobulinaemia characterised by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinaemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare DNA repair defect other than combined T-cell and B-cell immunodeficiencies characterized by intrauterine and postnatal growth retardation resulting in short stature, microcephaly, glucocorticoid deficiency, natural killer cell deficiency, and recurrent viral infections. Patients may also have increased susceptibility to cancer. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Anhidrotic ectodermal dysplasia with immune deficiency (disorder) |
Is a |
False |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by frequent infections associated with neutropenia and IgA deficiency, in combination with osteoporosis and skeletal anomalies, such as posterior spinal arch fusion defect, metacarpal subluxation, syndactyly, and camptodactyly. Reported dysmorphic features include synophrys, anteverted nostrils, and single palmar crease. There have been no further descriptions in the literature since 1972. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. |
Is a |
False |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polyps) are frequently present before malignancy development. |
Is a |
False |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Combined immunodeficiency due to OX40 deficiency is a rare, combined T and B cell immunodeficiency characterised by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischaemic or haemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare immune dysregulation disease with immunodeficiency and characteristics of severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare genetic disease with characteristics of facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naive T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4. Patients do not exhibit increased susceptibility to cancer. There is evidence the disease is caused by homozygous mutation in the POLE gene on chromosome 12q24. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare genetic immuno-osseous dysplasia disorder with characteristics of pre and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly). Also associated are humeral immunodeficiency with inability to generate specific antibodies and low circulating B-cells, craniofacial dysmorphism that typically includes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip. There is evidence the disease is caused by compound heterozygous mutation in the RNU4ATAC gene on chromosome 2q14. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare life-threatening autoinflammatory syndrome with immune deficiency disorder characterized by early-onset life-long inflammation affecting the skin and bowel associated with recurrent infections. Presents with perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare genetic endocrine disease characterised by the association of common variable immunodeficiency manifesting with hypogammaglobulinaemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency. Caused by heterozygous mutation in the NFKB2 gene on chromosome 10q24. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare severe genetic autoinflammatory syndrome characterised by usually neonatal onset of generalised neutrophilic cutaneous pustulosis and severe recurrent multifocal aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features. Caused by homozygous mutation in the IL1RN gene on chromosome 2q14. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare hereditary immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease. Caused by heterozygous deletion within the PLCG2 gene on chromosome 16q23. |
Is a |
False |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare genetic epidermal disorder with characteristics of congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophilia, nystagmus, growth impairment and cardiac defects. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare genetic haematologic and neurologic disease characterised by chronic Coombs-negative haemolysis. The disease is associated with early-onset relapsing immune-mediated inflammatory axonal or demyelinating sensory-motor peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation). |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| STING-associated vasculopathy with onset in infancy (disorder) |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988. |
Is a |
False |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare genetic primary immunodeficiency disorder with characteristics of increased susceptibility to Neisseria bacterial infections resulting from complement factor D deficiency. Typical manifestations are recurrent respiratory infections, recurrent meningitis and/or septicaemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations. Caused by homozygous mutation in the CFD gene on chromosome 19p13. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare genetic primary immunodeficiency disease with characteristics of increased susceptibility to recurrent usually severe infections (particularly by Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumonia), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (for example systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H. Caused by homozygous or compound heterozygous mutation in the gene encoding complement factor I on chromosome 4q25. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke all exhibiting progressive visual impairment as well as variable cerebral dysfunction. There is evidence the disease is caused by heterozygous mutation in the TREX1 gene on chromosome 3p21. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare genetic autoinflammatory syndrome with immune deficiency disease characterised by recurrent and severe flares of generalised pustular psoriasis associated with high fever, asthenia and systemic inflammation due to IL36R antagonist deficiency. Psoriatic nail changes (for example pitting and onychomadesis) and ichthyosis may occasionally be associated. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Genetically determined myasthenia |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Hennekam lymphangiectasia-lymphedema syndrome (disorder) |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Metafyseal kondrodysplasi, McKusick-type, med associeret immundefekt |
Is a |
False |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare genetic primary immunodeficiency with characteristics of susceptibility to infection (mainly by gram negative bacteria) due to extremely low C3 plasma levels. Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. Autoimmune disease resembling systemic lupus erythematosus and mesangiocapillary or membranoproliferative glomerulonephritis may develop, resulting in renal failure. The disease is caused by homozygous or compound heterozygous mutation in the C3 gene on chromosome 19p13. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare, genetic, mixed autoinflammatory and autoimmune syndrome characterized by chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Autoimmune lymphoproliferative syndrome |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Hereditary C1 esterase inhibitor deficiency - deficient factor |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Hereditary C1 esterase inhibitor deficiency - dysfunctional factor |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Familial cold urticaria |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure. The first manifestation of the disease (usually candidiasis) occurs in childhood with other manifestations appearing progressively. The most common autoimmune endocrine involvement is hypoparathyroidism (79-96% of cases). Adrenal failure most often manifests with concurrent mineralocorticoid and glucocorticoid deficiency (78% of cases). The disease is caused by mutations of the AIRE gene (21q22.3) coding for the AIRE transcription factor, which is involved in immune tolerance mechanisms and contributes to the negative selection of autoreactive T lymphocytes in the thymus, lymph nodes and spleen. Transmission is autosomal recessive. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare primary lymphoedema characterised by extensive, multisegmental lymphoedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal naevi and capillary malformations have also been reported. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare monogenic form of cutaneous lupus erythematosus characterised by infantile or childhood onset of cold-induced erythematous papules or plaques predominantly on the fingers, toes, nose, cheeks, and ears. Recurrent ulceration of the lesions may lead to necrotic tissue destruction and mutilation. Patients may experience ischaemia of the affected acral regions. Histological findings include cutaneous perivascular inflammatory infiltrates with deposits of immunoglobulins or complement. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare genetic systemic or rheumatologic disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Familial amyloid nephropathy with urticaria AND deafness |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Nakajo-Nishimura syndrome |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare autoinflammatory syndrome with characteristics of episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold. There is evidence the disease is caused by heterozygous mutation in the NLRP12 gene on chromosome 19q13. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A mixed autoinflammatory and autoimmune syndrome disorder with characteristics of recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures. Caused by heterozygous mutation in the PLCG2 gene on chromosome 16q. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare genetic neurological disorder characterized by severe pseudo-TORCH syndrome with signs of brain damage and occasionally systemic manifestations resembling the sequelae of congenital infection, but in the absence of an infectious agent. Characteristic features include microcephaly, white matter disease, cerebral atrophy, cerebral hemorrhage, and calcifications, among others. Affected individuals typically have seizures and respiratory insufficiency and die in infancy. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare hereditary periodic fever syndrome characterized by infantile or childhood onset of episodes of fever and cold-induced urticaria-like rash and arthralgias. Ocular features such as conjunctivitis and uveitis may also be present. Presentation is typically mild, and symptoms resolve without treatment in most cases. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by CD55 deficiency with complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy with abdominal pain, diarrhea, vomiting, primary intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption, leading to anemia and growth delay. Bowel inflammation and recurrent infections associated with hypogammaglobulinemia may also be observed. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare autoinflammatory disease and form of mevalonate kinase deficiency (MKD), characterised by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhoea, arthralgia and skin manifestations). The disease usually begins in the first year of life and rarely after 5 years of age. HIDS is an inherited syndrome caused by mutations in the mevalonate kinase (MVK) gene (12q24). These MVK mutations lead to reduced, but not abolished enzyme activity. This in turn leads to impaired control of the production of inflammatory mediators, which in turn cause inflammatory (fever) attacks. The disease follows an autosomal recessive pattern of inheritance. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Common variable agammaglobulinemia |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Hereditary paediatric Behçet-like disease |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Aicardi Goutieres syndrome |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare genetic multisystemic chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, amongst others. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Spondyloenchondrodysplasia |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Singleton-Merten syndrome |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| Trichohepatoenteric syndrome |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmented skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
| A rare ophthalmic disorder characterized by periodic inflammatory attacks of the cornea manifesting as unilateral ocular pain, conjunctival hyperemia, photophobia and epiphora lasting for 1 to 3 days, followed by blurred vision for several weeks. Caused by a heterozygous pathogenic variant c.61G>C, p.(Asp21His) in the NLRP3 gene. The pathogenic variant is highly penetrant (95%). The disease is autosomal dominant. |
Is a |
True |
Hereditary disorder of immune system |
Inferred relationship |
Some |
|
FHIR