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Disease	Synonyms	Description
acid anhydride respiratory allergy		A respiratory allergy that has_allergic_trigger ac..[+] A respiratory allergy that has_allergic_trigger acid anhydride. [-]
acidophil adenoma	Eosinophil adenoma;	n_a
acinar cell carcinoma	acinar cell carcinoma (morphologic abnormality); a.. [+] acinar cell carcinoma (morphologic abnormality); acinic cell carcinoma; [-]	A carcinoma that has_material_basis_in abnormally ..[+] A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells. [-]
acinar cell cystadenocarcinoma	acinar cell cystadenocarcinoma (morphologic abnorm.. [+] acinar cell cystadenocarcinoma (morphologic abnormality); pancreatic acinar cell cystadenocarcinoma; [-]	n_a
Acinetobacter infectious disease		An opportunistic bacterial infectious disease that..[+] An opportunistic bacterial infectious disease that has_material_basis_in Acinetobacter. [-]
acinic cell breast carcinoma		A breast adenocarcinoma that is characterized by w..[+] A breast adenocarcinoma that is characterized by widespread acinar cell-like differentiation. [-]
acne	Acne varioliformis; acne vulgaris; frontalis acne;.. [+] Acne varioliformis; acne vulgaris; frontalis acne; [-]	A sebaceous gland disease characterized by areas o..[+] A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring. [-]
acneiform dermatitis		n_a
acoustic neuroma	Vestibular Neurilemmoma; Vestibular schwannoma;	n_a
acquired angioedema		An angioedema that is characterized by an acquired..[+] An angioedema that is characterized by an acquired deficiency of (C1-INH) caused by either consumption or inactivation. [-]
acquired color blindness	acquired color vision deficiencies; acquired color.. [+] acquired color vision deficiencies; acquired color vision deficiency; acquired colour blindness; acquired colour vision deficiencies; acquired colour vision deficiency; [-]	n_a
acquired gastric outlet stenosis	acquired hypertrophic pyloric stenosis; adult hype.. [+] acquired hypertrophic pyloric stenosis; adult hypertrophic pyloric stenosis; [-]	n_a
acquired generalized lipodystrophy	Lawrence syndrome;	A complete generalized lipodystrophy that is chara..[+] A complete generalized lipodystrophy that is characterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth. [-]
acquired hemangioma		n_a
acquired hyperkeratosis	acquired Keratoderma; acquired keratoderma (disord.. [+] acquired Keratoderma; acquired keratoderma (disorder); acquired keratoderma NOS; acquired keratoderma NOS (disorder); acquired keratoderma; Keratoderma - acquired; Keratoderma, acquired; [-]	n_a
acquired immunodeficiency syndrome	acquired Immune deficiency; acquired immune defici.. [+] acquired Immune deficiency; acquired immune deficiency syndrome; AIDS; [-]	A Human immunodeficiency virus infectious disease ..[+] A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS. [-]
acquired laryngomalacia		A laryngeal disease that is characterized by acqui..[+] A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures. [-]
acquired metabolic disease		A disease of metabolism that has_material_basis_in..[+] A disease of metabolism that has_material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption. [-]
acquired night blindness	acquired night blindness (disorder);	A nutritional deficiency disease that is character..[+] A nutritional deficiency disease that is characterized by vitamin A deficiency causing poor adaptation of the eyes to low levels of light, and has_material_basis_in lack of vitamin A such that rhodopsin, a light sensitive retinal pigment, cannot be regenerated. [-]
acquired polycythemia	secondary Polycythemia; secondary polycythemia (di.. [+] secondary Polycythemia; secondary polycythemia (disorder); secondary polycythemia NOS (disorder); Polycythemia, secondary; secondary polycythemia; [-]	n_a
acquired tear duct stenosis	acquired nasolacrimal duct stenosis; acquired sten.. [+] acquired nasolacrimal duct stenosis; acquired stenosis of nasolacrimal duct; Stenosis of nasolacrimal duct, acquired; Tear duct - acquired stenosis; [-]	n_a
acquired thrombocytopenia	acquired thrombocytopenia (disorder); secondary th.. [+] acquired thrombocytopenia (disorder); secondary thrombocytopenia NOS; secondary thrombocytopenia NOS (disorder); secondary thrombocytopenia; [-]	n_a
acquired von Willebrand syndrome	AVWS;	A blood coagulation disease characterized by devel..[+] A blood coagulation disease characterized by development of a defect in clotting in the absence of previous bleeding symptoms, negative familial history, and occurrence in a relatively older age. Typically this develops secondarily to other disorders, such as lymphoproliferative, myeloproliferative, cardiovascular and autoimmune disorders. [-]
acral lentiginous melanoma	acral lentiginous melanoma, malignant (morphologic.. [+] acral lentiginous melanoma, malignant (morphologic abnormality); malignant acral lentiginous melanoma; acral lentiginous melanoma, malignant; [-]	A skin melanoma that is characterized by slow grow..[+] A skin melanoma that is characterized by slow growth of a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin and occurs on occurs on non hair-bairing surfaces including hands and feet, subungual sites, and fingers or toes. [-]
acrocallosal syndrome	ACLS; SCHINZEL ACROCALLOSAL SYNDROME; Schinzel syn.. [+] ACLS; SCHINZEL ACROCALLOSAL SYNDROME; Schinzel syndrome 1; [-]	A syndrome that is an autosomal recessive disorder..[+] A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation. [-]
acrocapitofemoral dysplasia		An osteochondrodysplasia characterized by skeletal..[+] An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene. [-]
acrocardiofacial syndrome	cleft palate, cardiac defect, genital anomalies, a.. [+] cleft palate, cardiac defect, genital anomalies, and ectrodactyly; cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome; [-]	A syndrome characterized by split-hand/split-foot ..[+] A syndrome characterized by split-hand/split-foot malformation, facial anomalies, cleft lip/palate, congenital heart defect, genital anomalies, and intellectual deficit. [-]
acrocephalosyndactylia	Apert syndrome;	A synostosis that results_in craniosynostosis and ..[+] A synostosis that results_in craniosynostosis and syndactyly. [-]
acrodermatitis		A dermatitis that selectively affects the hands an..[+] A dermatitis that selectively affects the hands and feet. [-]
acrodermatitis chronica atrophicans	Herxheimer disease; primary diffuse atrophy;	An acrodermatitis characterized by a chronically p..[+] An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis. [-]
acrodermatitis enteropathica		A metal metabolism disorder characterized by derma..[+] A metal metabolism disorder characterized by dermatitis around bodily openings and the tips of fingers and toes, alopecia and diarrhea and has_material_basis_in mutation in the SLC39A4 gene that encodes a zinc uptake protein and results in zinc deficiency. [-]
acrodysostosis		A dysostosis that results_in shortening of interph..[+] A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency. [-]
acrofacial dysostosis		A hetergeneous dysostosis that is characterized by..[+] A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene. [-]
acrofacial dysostosis, Catania type	Opitz Mollica Sorge syndrome; Opitz-Caltabiano syn.. [+] Opitz Mollica Sorge syndrome; Opitz-Caltabiano syndrome; [-]	An acrofacial dysostosis that is characterized by ..[+] An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias. [-]
acrofacial dysostosis Cincinnati type		An acrofacial dysostosis characterized by a spectr..[+] An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11. [-]
acrofacial dysostosis, Patagonia type		An acrofacial dysostosis that is characterized by ..[+] An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in X-linked dominant inheritance. [-]
acrofacial dysostosis Rodriguez type	acrofacial dysostosis, syndrome of Rodriguez;	An acrofacial dysostosis that is characterized by ..[+] An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance. [-]
acrofrontofacionasal dysostosis	AFFN dysostosis; Richieri-Costa-Colletto syndrome;.. [+] AFFN dysostosis; Richieri-Costa-Colletto syndrome; [-]	A dysostosis characterized by intellectual disabil..[+] A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure. [-]
acrokeratosis verruciformis	Acrokeratosis verruciformis of Hopf; Hopf disease;.. [+] Acrokeratosis verruciformis of Hopf; Hopf disease; [-]	A keratosis that has_material_basis_in mutations i..[+] A keratosis that has_material_basis_in mutations in the ATP2A2 gene. [-]
acromegaly		A disease of metabolism that has_material_basis_in..[+] A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb. [-]
acromelic frontonasal dysostosis		A dysostosis characterized by cranium bifidum, sev..[+] A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations. [-]
acromesomelic dysplasia		An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by mesomelia and acromelia, which results_in short limb dwarfism. [-]
acromesomelic dysplasia-3	Demirhan-type acromesomelic dysplasia;	An acromesomelic dysplasia that has_material_basis..[+] An acromesomelic dysplasia that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22. [-]
acromesomelic dysplasia-4		An acromesomelic dysplasia that is characterized b..[+] An acromesomelic dysplasia that is characterized by disproportionate short stature due to mesomelic shortening of the limbs and that has_material_basis_in homozygous mutation in the PRKG2 gene on chromosome 4q21. [-]
acromesomelic dysplasia, Grebe type	GREBE CHONDRODYSPLASIA; acromesomelic dysplasia-2A.. [+] GREBE CHONDRODYSPLASIA; acromesomelic dysplasia-2A; grebe chondrodysplasia; [-]	An acromesomelic dysplasia that has_material_basis..[+] An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones. [-]
acromesomelic dysplasia, Hunter-Thompson type	acromesomelic dwarfism; acromesomelic dysplasia-2C.. [+] acromesomelic dwarfism; acromesomelic dysplasia-2C; [-]	An acromesomelic dysplasia that has_material_basis..[+] An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot. [-]
acromesomelic dysplasia, Maroteaux type	acromesomelic dysplasia-1;	An acromesomelic dysplasia that has_material_basis..[+] An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments. [-]
acromicric dysplasia	ACMICD; acromicric skeletal dysplasia;	An osteochondrodysplasia characterized by autosoma..[+] An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1. [-]
acrorenal syndrome		A syndrome characterized by limb defects, usually ..[+] A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes. [-]
ACTH-independent macronodular adrenal hyperplasia	ACTH-independent macronodular adrenocortical hyper.. [+] ACTH-independent macronodular adrenocortical hyperplasia; adrenocorticotropic hormone-independent macronodular adrenal hyperplasia; AIMAH; corticotropin-independent macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; massive macronodular adrenocortical disease; MMAD; primary macronodular adrenal hyperplasia; [-]	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. [-]

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