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Disease	Synonyms	Description
adult infiltrating astrocytic neoplasm	adult Infiltrating Astrocytic tumor; adult Infiltr.. [+] adult Infiltrating Astrocytic tumor; adult Infiltrating astrocytoma; [-]	n_a
adult intracranial malignant hemangiopericytoma	adult malignant intracranial hemangiopericytoma;	n_a
adult leptomeningeal melanoma	melanoma of adult Leptomeninges;	n_a
adult liposarcoma		n_a
adult lymphoma		n_a
adult malignant hemangiopericytoma		n_a
adult malignant mesenchymoma		n_a
adult malignant schwannoma	adult MPNST;	n_a
adult medulloblastoma	adult brain medulloblastoma;	n_a
adult mesenchymal chondrosarcoma		An adult sarcoma of soft tissue and mesenchymal ch..[+] An adult sarcoma of soft tissue and mesenchymal chondrosarcoma that is located_in the cartilage. [-]
adult oligodendroglioma	adult brain oligodendroglioma; grade II adult Olig.. [+] adult brain oligodendroglioma; grade II adult Oligodendroglial tumor; [-]	n_a
adult-onset ataxia and polyneuropathy		A mitochondrial metabolism disease characterized b..[+] A mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. [-]
adult-onset autosomal dominant demyelinating leukodystrophy	ADLD; adult-onset autosomal dominant leukodystroph.. [+] ADLD; adult-onset autosomal dominant leukodystrophy; autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease; [-]	A leukodystrophy characterized by onset in the 4th..[+] A leukodystrophy characterized by onset in the 4th or 5th decade of life of autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS that has_material_basis_in heterozygous tandem genomic duplication resulting in an extra copy of the LMNB1 gene on chromosome 5q. [-]
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia	hereditary diffuse leukoencephalopathy with sphero.. [+] hereditary diffuse leukoencephalopathy with spheroids; [-]	A leukodystrophy that is characterized by progress..[+] A leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has_material_basis_in heterozygous mutation in the CSF1R gene on chromosome 5q32. [-]
adult-onset severe asthma		A chronic asthma that is characterized by first pr..[+] A chronic asthma that is characterized by first presentation in adulthood. [-]
adult-onset Still's disease	adult onset Still's disease; adult-onset Still dis.. [+] adult onset Still's disease; adult-onset Still disease; [-]	A rheumatoid arthritis that is characterized by hi..[+] A rheumatoid arthritis that is characterized by high fevers, rash, sore throat and joint pain. [-]
adult-onset type II citrullinemia	citrin deficiency;	A citrullinemia that has_material_basis_in homozyg..[+] A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21. [-]
adult papillary meningioma		n_a
adult pineal parenchymal tumor	adult Pineal Parenchymal neoplasm;	n_a
adult pineoblastoma		n_a
adult pleomorphic rhabdomyosarcoma		n_a
adult respiratory distress syndrome	adult RDS; ARDS; Non-cardiogenic pulmonary edema; .. [+] adult RDS; ARDS; Non-cardiogenic pulmonary edema; Shock lung; acute respiratory distress syndrome; [-]	A respiratory failure that results from diffuse in..[+] A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia. [-]
adult spinal cord ependymoma		n_a
adult spinal cord glioblastoma multiforme	Glioblastoma multiforme of spinal cord (disorder);.. [+] Glioblastoma multiforme of spinal cord (disorder); adult Spinal Cord Glioblastoma; Glioblastoma multiforme of spinal cord; [-]	n_a
adult spinal muscular atrophy	SPINAL MUSCULAR ATROPHY, ADULT FORM; SPINAL MUSCUL.. [+] SPINAL MUSCULAR ATROPHY, ADULT FORM; SPINAL MUSCULAR ATROPHY, TYPE IV; SMA4; spinal muscular atrophy 4; [-]	A spinal muscular atrophy that is characterized by..[+] A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. [-]
ADULT syndrome	acro-dermato-ungual-lacrimal-tooth syndrome;	A syndrome that is characterized by light pigmenta..[+] A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. [-]
adult T-cell leukemia/lymphoma	Adult T-cell leukemia/lymphoma; adult T-cell leuke.. [+] Adult T-cell leukemia/lymphoma; adult T-cell leukemia; Adult T-cell leukemia/lymphoma (HTLV-1 positive); [-]	A T-cell acute leukemia that results_in abnormal i..[+] A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1 (HTLV-1), which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions. [-]
adult teratoma	adult teratoma, NOS;	A benign teratoma that is present in an adult.
adult type testicular granulosa cell tumor		n_a
adult vagina botryoid rhabdomyosarcoma		A vagina botryoid rhabdomyosarcoma that presents i..[+] A vagina botryoid rhabdomyosarcoma that presents in adulthood. [-]
adult xanthogranuloma		n_a
advanced sleep phase syndrome	familial advanced sleep-phase syndrome;	A sleep disorder that involves an altered circadia..[+] A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning. [-]
advanced sleep phase syndrome 1	FASPS1; familial advanced sleep phase syndrome 1;	An advanced sleep phase syndrome that has_material..[+] An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER2 gene on chromosome 2q37. [-]
advanced sleep phase syndrome 2	familial advanced sleep phase syndrome 2; FASPS2;	An advanced sleep phase syndrome that has_material..[+] An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the CSNK1D gene on chromosome 17q25. [-]
advanced sleep phase syndrome 3	familial advanced sleep phase syndrome 3; FASPS3;	An advanced sleep phase syndrome that has_material..[+] An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER3 gene on chromosome 1p36.23. [-]
advanced sleep phase syndrome 4	familial advanced sleep phase syndrome 4; FASPS4;	An advanced sleep phase syndrome that has_material..[+] An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the TIMELESS gene on chromosome 12q13. [-]
afferent loop syndrome	Afferent loop syndrome (disorder); Afferent limb s.. [+] Afferent loop syndrome (disorder); Afferent limb syndrome; [-]	A postgastrectomy syndrome that is characterized b..[+] A postgastrectomy syndrome that is characterized by obstruction of the afferent loop that arises after gastric surgery with gastrojejunostomy reconstruction. [-]
aflatoxins-related hepatocellular carcinoma		n_a
African histoplasmosis		A histoplasmosis that results in systemic fungal i..[+] A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted by airborne spores and results in formation of nodules, results in formation of ulcers and results in formation of osteolytic bone lesions. [-]
African iron overload	Bantu siderosis; iron overload in Africa;	A hemochromatosis characterized by a predispositio..[+] A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums. [-]
African tick-bite fever	Rickettsia africae spotted fever; south african ti.. [+] Rickettsia africae spotted fever; south african tick-bite fever; [-]	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash. [-]
agammaglobulinemia	hypogammaglobulinemia; IGHM; mu heavy chain defici.. [+] hypogammaglobulinemia; IGHM; mu heavy chain deficiency; [-]	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. [-]
agammaglobulinemia 1		An agammaglobulinemia that has_material_basis_in h..[+] An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM) on chromosome 14q32. [-]
agammaglobulinemia 10		An agammaglobulinemia that is characterized by ear..[+] An agammaglobulinemia that is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. and that has_material_basis_in heterozygous mutation in the SPI1 gene on chromosome 11p11. [-]
agammaglobulinemia 2		An agammaglobulinemia that has_material_basis_in h..[+] An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the immunoglobulin lambda-like-1 gene (IGLL1) on chromosome 22q11. [-]
agammaglobulinemia 3		An agammaglobulinemia that has_material_basis_in h..[+] An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79A gene on chromosome 19q13.2. [-]
agammaglobulinemia 4	BLNK deficiency; B cell linker protein deficiency;.. [+] BLNK deficiency; B cell linker protein deficiency; B-cell linker protein deficiency; [-]	An agammaglobulinemia that has_material_basis_in a..[+] An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2. [-]
agammaglobulinemia 5		An agammaglobulinemia that has_material_basis_in h..[+] An agammaglobulinemia that has_material_basis_in heterozygous mutation in the LRRC8A gene on chromosome 9q34. [-]
agammaglobulinemia 6		An agammaglobulinemia that has_material_basis_in h..[+] An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79B gene on chromosome 17q23. [-]
agammaglobulinemia 7		An agammaglobulinemia that has_material_basis_in h..[+] An agammaglobulinemia that has_material_basis_in homozygous mutation in the PIK3R1 gene on chromosome 5q13. [-]

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