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Disease	Synonyms	Description
A53 diffuse large B-cell lymphoma	A53 DLBCL;	A diffuse large B-cell lymphoma that is characteri..[+] A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation. [-]
ABCD syndrome	albinism, block lock, cell migration disorder of t.. [+] albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness; ABCDS; albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness; [-]	A syndrome that is characterized by albinism, blac..[+] A syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB). [-]
ACTH-independent macronodular adrenal hyperplasia	ACTH-independent macronodular adrenocortical hyper.. [+] ACTH-independent macronodular adrenocortical hyperplasia; adrenocorticotropic hormone-independent macronodular adrenal hyperplasia; corticotropin-independent macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; massive macronodular adrenocortical disease; Primary macronodular adrenal hyperplasia; primary macronodular adrenal hyperplasia; AIMAH; MMAD; [-]	A primary hyperaldosteronism characterized by mult..[+] A primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol. [-]
ACTH-independent macronodular adrenal hyperplasia 1	AIMAH1;	An ACTH-independent macronodular adrenal hyperplas..[+] An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32. [-]
ACTH-independent macronodular adrenal hyperplasia 2	AIMAH2;	An ACTH-independent macronodular adrenal hyperplas..[+] An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in a combination of autosomal dominant and second hit somatic mutation in the ARMC5 gene on chromosome 16p11.2. [-]
ACTH-secreting pituitary adenoma	ACTH-Producing Pituitary Adenoma; Corticotroph ade.. [+] ACTH-Producing Pituitary Adenoma; Corticotroph adenoma; Corticotropinoma; [-]	A functioning pituitary adenoma that characterized..[+] A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome. [-]
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 a mutation in TP63. [-]
AGAT deficiency	arginine:glycine amidinotransferase deficiency; CE.. [+] arginine:glycine amidinotransferase deficiency; CEREBRAL CREATINE DEFICIENCY SYNDROME 3; arginine glycine amidinotransferase deficiency; Cerebral creatine deficiency syndrome 3; [-]	An amino acid metabolic disorder that has_material..[+] An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. [-]
AIDS phobia		n_a
AMED syndrome	AMEDS;	A syndrome that is characterized by global develop..[+] A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance. [-]
AMME complex	Alport syndrome-intellectual disability-midface hy.. [+] Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME syndrome; ATS-MR; chromosome Xq22.3 telomeric deletion syndrome; [-]	A syndrome characterized by Alport syndrome, menta..[+] A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3. [-]
APP-related cerebral amyloid angiopathy	Amyloidosis, Cerebroarterial, App-Related; Amyloid.. [+] Amyloidosis, Cerebroarterial, App-Related; Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant; Cerebral Amyloid Angiopathy, App-Related, Arctic Variant; Cerebral Amyloid Angiopathy, App-Related, Dutch Variant; Cerebral Amyloid Angiopathy, App-Related, Flemish Variant; Cerebral Amyloid Angiopathy, App-Related, Iowa Variant; Cerebral Amyloid Angiopathy, App-Related, Italian Variant; HCHWAD; [-]	A cerebral amyloid angiopathy that has_material_ba..[+] A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3. [-]
ARC syndrome	Arthrogryposis, renal dysfunction and cholestasis .. [+] Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome; ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS; Arthrogryposis-renal dysfunction-cholestasis; [-]	A syndrome that is characterized by congenital joi..[+] A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3. [-]
Aagenaes syndrome	Cholestasis-edema syndrome, Norwegian type (disord.. [+] Cholestasis-edema syndrome, Norwegian type (disorder); Cholestasis-edema syndrome, Norwegian type; [-]	A syndrome that is characterized by congenital hyp..[+] A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts. [-]
Aarskog syndrome	faciodigitogenital syndrome; faciogenital dysplasi.. [+] faciodigitogenital syndrome; faciogenital dysplasia; Aarskog-Scott syndrome; [-]	A syndrome characterized by facial, limbs and geni..[+] A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature. [-]
Abruzzo-Erickson syndrome	cleft palate-coloboma-deafness syndrome; CHARGE-li.. [+] cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome, X-linked; [-]	A syndrome characterized by cleft palate, coloboma..[+] A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1. [-]
Achard syndrome		A syndrome that involves arachnodactyly, receding ..[+] A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet. [-]
Achenbach syndrome	Paroxysmal hematoma of the finger (disorder); Paro.. [+] Paroxysmal hematoma of the finger (disorder); Paroxysmal hematoma of the finger; [-]	n_a
Achilles bursitis	Achilles bursitis or tendinitis; Haglund's deformi.. [+] Achilles bursitis or tendinitis; Haglund's deformity; Haglund's disease; Capped hock; [-]	n_a
Acinetobacter infectious disease		An opportunistic bacterial infectious disease that..[+] An opportunistic bacterial infectious disease that has_material_basis_in Acinetobacter. [-]

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