| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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motor peripheral neuropathy
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HSMN - Hereditary sensory and motor neuropathy; HS..
[+]
HSMN - Hereditary sensory and motor neuropathy; HSMN; Hereditary motor and sensory neuropathy; neuropathic muscular atrophy; Peripheral Motor Neuropathy
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A neuropathy that is characterized by inflammation.. [+]A neuropathy that is characterized by inflammation or degeneration of the peripheral motor nerves.
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intracranial structure hemangioma
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hemangioma of intracranial structure; hemangioma o..
[+]
hemangioma of intracranial structure; hemangioma of intracranial structures (disorder); hemangioma of intracranial structures; hemangioma of intracranial structure (disorder); Angioma of intracranial Structure
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n_a
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Langerhans-cell histiocytosis
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Histiocytosis X; Langerhans cell granulomatosis; L..
[+]
Histiocytosis X; Langerhans cell granulomatosis; Letterer-Siwe disease; Letterer-Siwe disease involving intra-abdominal lymph nodes; Letterer-Siwe disease involving intrapelvic lymph nodes; Letterer-Siwe disease involving lymph nodes of axilla and upper limb; Letterer-Siwe disease involving lymph nodes of head, face and neck; Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb; Letterer-Siwe disease involving lymph nodes of multiple sites; Letterer-Siwe disease involving spleen; Letterer-Siwe disease of intra-abdominal lymph nodes; Letterer-Siwe disease of intrapelvic lymph nodes; Letterer-Siwe disease of intrapelvic lymph nodes (disorder); Letterer-Siwe disease of intrathoracic lymph nodes; Letterer-Siwe disease of lymph nodes of axilla and upper limb (disorder); Letterer-Siwe disease of lymph nodes of axilla and/or upper limb; Letterer-Siwe disease of lymph nodes of head, face and neck (disorder); Letterer-Siwe disease of lymph nodes of head, face and/or neck (disorder); Letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb; Letterer-Siwe disease of lymph nodes of inguinal region and lower limb (disorder); Letterer-Siwe disease of lymph nodes of multiple sites; Letterer-Siwe disease of lymph nodes of multiple sites (disorder); Letterer-Siwe disease of spleen; Letterer-Siwe disease of spleen (disorder); Langerhan's cell histiocytosis (disorder); Letterer-Siwe disease involving intrathoracic lymph nodes; Letterer-Siwe disease involving lymph nodes of head, face, and neck; Letterer-Siwe disease of intra-abdominal lymph nodes (disorder); Letterer-Siwe disease of intrathoracic lymph nodes (disorder); Letterer-Siwe disease of lymph nodes of axilla and/or upper limb (disorder); Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb (disorder); Langerhan's cell histiocytosis; Letterer-Siwe disease of lymph nodes of axilla and upper limb; Letterer-Siwe disease of lymph nodes of head, face and neck; Letterer-Siwe disease of lymph nodes of head, face and/or neck; Letterer-Siwe disease of lymph nodes of inguinal region and lower limb; Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb
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A histiocytosis that is characterized by clonal pr.. [+]A histiocytosis that is characterized by clonal proliferation of Langerhans cells.
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agammaglobulinemia
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hypogammaglobulinemia; IGHM; mu heavy chain defici..
[+]
hypogammaglobulinemia; IGHM; mu heavy chain deficiency
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A B cell deficiency that is caused by a reduction .. [+]A B cell deficiency that is caused by a reduction in all types of gamma globulins.
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Gilbert syndrome
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hereditary nonhemolytic jaundice; Constitutional h..
[+]
hereditary nonhemolytic jaundice; Constitutional hyperbilirubinemia; Gilbert's disease; Gilbert-Meulengracht syndrome; Gilbert's syndrome
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A bilirubin metabolic disorder that involves eleva.. [+]A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.
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bilirubin metabolic disorder
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hyperbilirubinaemia; hyperbilirubinemia; hereditar..
[+]
hyperbilirubinemia; hyperbilirubinaemia; hereditary hyperbilirubinemia
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An inherited metabolic disorder that involves elev.. [+]An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.
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1 articles
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glycogen storage disease VIII
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hepatic glycogen phosphorylase kinase deficiency; ..
[+]
hepatic glycogen phosphorylase kinase deficiency; hepatic glycogen phosphorylase kinase deficiency (disorder); Glycogen storage disease type VIII (disorder); glycogenosis type VIII; glycogen storage disease type VIII; Glycogen storage disease type VIII; Glycogen storage disease 8
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A glycogen storage disease that is characterized h.. [+]A glycogen storage disease that is characterized hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase and results from the lack of expression of phosphorylase-b-kinase activity.
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glycogen storage disease VI
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hepatic glycogen phosphorylase deficiency; hepatic..
[+]
hepatic glycogen phosphorylase deficiency; hepatic glycogen phosphorylase deficiency (disorder); Hers' disease; hepatophosphorylase deficiency glycogenosis; glycogen storage disease type VI; Glycogen storage disease 6
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A glycogen storage disease characterized by enlarg.. [+]A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation.
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acute interstitial pneumonia
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Hamman-Rich syndrome; Hamman-Rich disease; acceler..
[+]
Hamman-Rich disease; Hamman-Rich syndrome; accelerated interstitial pneumonia; acute interstitial pneumonitis; AIP; Idiopathic pulmonary fibrosis, acute fatal form
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A idiopathic interstitial pneumonia which develops.. [+]A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later, it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure.
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congenital nonspherocytic hemolytic anemia
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hereditary nonspherocytic hemolytic anaemia; HNSHA..
[+]
hereditary nonspherocytic hemolytic anaemia; HNSHA; hereditary nonspherocytic hemolytic anemia; congenital nonspherocytic hemolytic anaemia
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n_a
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Goldenhar syndrome
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HEMIFACIAL MICROSOMIA; Facio-auriculo-vertebral sp..
[+]
HEMIFACIAL MICROSOMIA; Facio-auriculo-vertebral spectrum (disorder); First AND second branchial arch syndrome; First arch syndrome (disorder); Otomandibular dysostosis (disorder); OAV (oculoauriculovertebral) dysplasia; Facio-auriculo-vertebral spectrum; First arch syndrome; Otomandibular dysostosis
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A syndrome that is characterized by incomplete dev.. [+]A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.
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1 articles
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Klippel-Trenaunay syndrome
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Haemangiectatic hypertrophy; Klippel-Trenaunay-Web..
[+]
Haemangiectatic hypertrophy; Klippel-Trenaunay-Weber syndrome; angioosteohypertrophy syndrome
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A syndrome that is characterized by large cutaneou.. [+]A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.
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acute porphyria
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hepatic porphyria; hepatic porphyria (disorder)
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A porphyria that has_symptom abdominal pain, has_s.. [+]A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis.
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schwannoma of twelfth cranial nerve
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Hypoglossal Schwannoma
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A neurilemmoma that is located_in the 12th cranial.. [+]A neurilemmoma that is located_in the 12th cranial nerve.
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Pelizaeus-Merzbacher disease
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HLD1; hypomyelinating leukodystrophy 1; Leukodystr..
[+]
hypomyelinating leukodystrophy 1; HLD1; Leukodystrophy, sudanophilic; Pelizaeus Merzbacher brain sclerosis; Pelizaeus-Merzbacher brain sclerosis; sudanophilic leukodystrophy, Paelizeus-Merzbacher type; diffuse familial brain sclerosis; PMD
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A hypomyelinating leukodystrophy characterized by .. [+]A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.
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Tay-Sachs disease
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hexosaminidase A deficiency; disease, Tay-Sachs; T..
[+]
hexosaminidase A deficiency; disease, Tay-Sachs; Tay-Sachs disease (disorder); A GM2 gangliosidosis that is characterized the onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.; GM2 gangliosidosis, type 1
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A GM2 gangliosidosis that is characterized onset i.. [+]A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.
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osteitis fibrosa
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hyperparathyroid bone disease; Osteitis fibrosa cy..
[+]
hyperparathyroid bone disease; Osteitis fibrosa cystica generalisata (disorder); Von Recklinghausen's bone disease; Osteitis fibrosa cystica generalisata
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A bone resorption disease that has_material_basis_.. [+]A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone.
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inclusion body myositis
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HIBM; Hereditary Inclusion Body Myopathy; Distal M..
[+]
Hereditary Inclusion Body Myopathy; HIBM; Distal Myopathy with Rimmed Vacuoles (DMRV); inclusion body myopathy 3; Nonaka myopathy; Distal Myopathy with Rimmed Vacuoles; Distal myopathy, Nonaka type; IBM-3; inclusion body myopathy 2; Nonaka Myopathy; IBM2
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A myositis that is characterized by late onset of .. [+]A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.
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3 articles
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liver cancer
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hepatic cancer; hepatic neoplasm; ca liver - prima..
[+]
hepatic neoplasm; hepatic cancer; ca liver - primary; Ca liver - primary (disorder); malignant hepato-biliary neoplasm; malignant neoplasm of liver (disorder); malignant neoplasm of liver unspecified (disorder); malignant neoplasm of liver, primary; malignant tumor of liver (disorder); non-resectable primary hepatic malignant neoplasm; primary liver cancer; primary malignant neoplasm of liver; primary malignant neoplasm of liver NOS (disorder); malignant neoplasm of liver; neoplasm of liver (disorder); primary malignant neoplasm of liver (disorder); Ca liver - primary; malignant tumor of liver; resectable malignant neoplasm of the liver; malignant neoplasm of liver, not specified as primary or secondary; Resectable malignant neoplasm of Liver; primary malignant neoplasm of Liver; neoplasm of liver
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A hepatobiliary system cancer that is located_in t.. [+]A hepatobiliary system cancer that is located_in the liver.
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2 articles
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gestational trophoblastic neoplasm
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hydatidiform mole; gestational trophoblastic neopl..
[+]
hydatidiform mole; gestational trophoblastic neoplasia; molar pregnancy
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n_a
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Kallmann syndrome
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Hypogonadism with anosmia; Hypogonadism with anosm..
[+]
Hypogonadism with anosmia; Hypogonadism with anosmia (disorder); familial hypogonadism with anosmia; Kallman syndrome; Kallman's syndrome
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A hypogonadotropic hypogonadism with a defective s.. [+]A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia).
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2 articles
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antithrombin III deficiency
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hereditary thrombophilia due to congenital antithr..
[+]
hereditary thrombophilia due to congenital antithrombin deficiency; AT III deficiency
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A thrombophilia that is characterized by the tende.. [+]A thrombophilia that is characterized by the tendency to form clots in the veins.
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Lynch syndrome
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Hereditary nonpolyposis colorectal cancer syndrome..
[+]
Hereditary nonpolyposis colorectal cancer syndrome; Hereditary nonpolyposis colon cancer syndrome; Hereditary nonpolyposis colon cancer; Hereditary non-polyposis colorectal cancer syndrome; Hereditary non-polyposis colorectal cancer; Hereditary non-polyposis colon cancer syndrome; Hereditary non-polyposis colon cancer; hereditary nonpolyposis colorectal neoplasm; hereditary non-polyposis colon cancer type 1; HNPCC - hereditary nonpolyposis colon cancer; hereditary nonpolyposis colorectal cancer; Hereditary Defective Mismatch Repair syndrome; COCA 1
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A syndrome that is characterized by an increased r.. [+]A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.
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progeria
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Hutchinson-Gilford Progeria syndrome; Hutchinson G..
[+]
Hutchinson-Gilford Progeria syndrome; Hutchinson Gilford syndrome; Hutchinson-Gilford disease; HGPS
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A progeroid syndrome characterized by extreme shor.. [+]A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22.
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3 articles
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adrenal gland hyperfunction
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hypercortisolism; hyperadrenalism; Adrenocortical ..
[+]
hyperadrenalism; hypercortisolism; Adrenocortical hyperfunction
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n_a
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2 articles
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thyroid gland carcinoma
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head and neck cancer, Thyroid; thyroid gland carci..
[+]
head and neck cancer, Thyroid; thyroid gland carcinoma
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A thyroid gland cancer that has_material_basis_in .. [+]A thyroid gland cancer that has_material_basis_in epithelial cells.
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pantothenate kinase-associated neurodegeneration
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Hallervorden-Spatz disease; Hallervorden-Spatz syn..
[+]
Hallervorden-Spatz disease; Hallervorden-Spatz syndrome; NBIA1; neurodegeneration with brain iron accumulation 1; Pigmentary pallidal degeneration (disorder); Pigmentary pallidal degeneration; brain Iron Accumulation type I syndrome
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A neurodegeneration with brain iron accumulation t.. [+]A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13.
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scimitar syndrome
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hypogenetic lung syndrome; Halasz syndrome; pulmon..
[+]
Halasz syndrome; hypogenetic lung syndrome; pulmonary venolobar syndrome; congenital venolobar syndrome; mirror-image lung syndrome; total anomalous pulmonary venous return; vena cava bronchovascular syndrome
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A congenital heart disease that is characterized b.. [+]A congenital heart disease that is characterized by partial or entire anomalous curved venous drainage of the right lung to the inferior vena cava, association with variable right lung and pulmonary artery hypoplasia, dextraposition of the heart and an anomalous systemic blood supply to the ipsilateral lung.
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renal cell carcinoma
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hypernephroma; adenocarcinoma of kidney; RCC
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A renal carcinoma that has_material_basis_in the l.. [+]A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.
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allergic rhinitis
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hay fever; atopic rhinitis; Non-seasonal allergic ..
[+]
hay fever; atopic rhinitis; Non-seasonal allergic rhinitis; Perenial allergic rhinitis; pollenosis; seasonal allergic rhinitis
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A rhinitis that is an allergic inflammation and ir.. [+]A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.
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1 articles
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3 matches
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central nervous system angiosarcoma
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hemangiosarcoma of the CNS
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A central nervous system sarcoma that is located_i.. [+]A central nervous system sarcoma that is located_in the inner lining of blood vessels.
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breast angiosarcoma
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hemangiosarcoma of the breast
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An angiosarcoma and sarcoma of breast and vascular.. [+]An angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located_in the cells that line the blood vessels within the breast or underarm area.
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gallbladder angiosarcoma
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hemangiosarcoma of gallbladder
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An angiosarcoma and gallbladder sarcoma that is lo.. [+]An angiosarcoma and gallbladder sarcoma that is located_in the gallbladder.
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thyroid angiosarcoma
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hemangiosarcoma of the Thyroid
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A thyroid sarcoma and angiosarcoma that results_in.. [+]A thyroid sarcoma and angiosarcoma that results_in a high prevalence of iodine-deficient goiter.
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skin angiosarcoma
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hemangiosarcoma of the skin; angiosarcoma of skin ..
[+]
hemangiosarcoma of the skin; angiosarcoma of skin (disorder); angiosarcoma of skin
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An angiosarcoma and hemangioma of skin and maligna.. [+]An angiosarcoma and hemangioma of skin and malignant skin vascular tumor and sarcoma of skin that is located_in the skin and results_in an enlarged bruise (a blue-black nodule) and an unhealed ulceration.
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mediastinum angiosarcoma
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hemangiosarcoma of mediastinum
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An angiosarcoma and sarcoma of the mediastinum tha.. [+]An angiosarcoma and sarcoma of the mediastinum that is located_in the mediastinum.
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ovarian angiosarcoma
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hemangiosarcoma of Ovary
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An ovary sarcoma that is a malignant vascular tumo.. [+]An ovary sarcoma that is a malignant vascular tumor that derives_from blood vessels.
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familial retinoblastoma
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Hereditary Retinoblastoma
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n_a
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Klatskin's tumor
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hilar cholangiocellular carcinoma; hilar cholangio..
[+]
hilar cholangiocellular carcinoma; hilar cholangiocarcinoma; Klatskin tumor; Klatskin tumour; Perihilar extrahepatic bile duct carcinoma; Klatskin's tumour
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An intrahepatic cholangiocarcinoma arising near or.. [+]An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts.
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meninges hemangiopericytoma
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hemangiopericytoma of meninges; hemangiopericytoma..
[+]
hemangiopericytoma of meninges; hemangiopericytoma of meninges (disorder); Meningeal hemangiopericytoma
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n_a
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fibrolamellar carcinoma
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Hepatocellular carcinoma, fibrolamellar; Fibrolame..
[+]
Hepatocellular carcinoma, fibrolamellar; Fibrolamellar hepatocellular carcinoma; Oncocytic Hepatocellular tumor
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A hepatocellular carcinoma characterized microscop.. [+]A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers.
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copper deficiency myelopathy
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human swayback; Swayback of sheep (disorder)
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A nutritional deficiency disease that is character.. [+]A nutritional deficiency disease that is characterized by deficiency of copper, causing spastic gait and ataxia, often with anemia and neutropenia, has_symptom imbalance and jerking movements, and has_material_basis_in copper deficiency possibly due to malabsorption or excess zinc ingestion.
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gingival hypertrophy
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hypertrophy of gingivae
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n_a
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focal epithelial hyperplasia
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Heck disease; Heck's disease; Multifocal epithelia..
[+]
Heck's disease; Heck disease; Multifocal epithelial hyperplasia
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A viral infectious disease that results_in infecti.. [+]A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity.
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breast hemangiopericytoma
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hemangiopericytoma of the breast
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A hemangiopericytoma that is manifested in the bre.. [+]A hemangiopericytoma that is manifested in the breast.
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primary ovarian insufficiency
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hypergonadotropic hypogonadism; premature ovarian ..
[+]
hypergonadotropic hypogonadism; premature ovarian insufficiency; primary ovarian insufficiency; premature menopause; premature ovarian failure
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An ovarian disease where ovaries do not produce es.. [+]An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.
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1 articles
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Pediculus humanus capitis infestation
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head louse infestation; Pediculosis capitis (disor..
[+]
head louse infestation; Pediculosis capitis (disorder); Pediculus capitis; Pediculus capitis [head louse]; Pediculosis capitis; Pediculus capitis infestation
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A lice infestation that involves colonization of t.. [+]A lice infestation that involves colonization of the hair and skin by the parasitic insect Pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperature. The symptoms include tickling feeling of something moving in the hair, itching, caused by an allergic reaction to louse saliva, and irritability.
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central nervous system hematologic cancer
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hematopoietic neoplasm of central nervous system; ..
[+]
hematopoietic neoplasm of central nervous system; CNS hematopoietic tumor
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A hematologic cancer and central nervous system ne.. [+]A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system.
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myocardial infarction
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heart attack; Myocardial infarct
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A coronary artery disease characterized by myocard.. [+]A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.
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2 articles
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familial renal papillary carcinoma
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Hereditary Papillary renal carcinoma
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n_a
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