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Disease	Synonyms	Description	Articles
achondrogenesis type IA	achondrogenesis Houston-Harris type;	An achondrogenesis that results_in abnormal ossifi..[+] An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine. [-]
achondrogenesis type IB	achondrogenesis Fraccaro type;	An achondrogenesis that has_material_basis_in muta..[+] An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen. [-]
achondrogenesis type II		An achondrogenesis that has_material_basis_in muta..[+] An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis. [-]
achondroplasia	osteosclerosis congenita; Achondroplastic physique.. [+] osteosclerosis congenita; Achondroplastic physique; Chondrodystrophia; [-]	An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone. [-]
achromatopsia	ACHM; Monochromatism;	A color blindness that is characterized by a conge..[+] A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance. [-]	3 articles
achromatopsia 2	ACHM2; rod monochromacy 2; rod monochromatism 2; R.. [+] ACHM2; rod monochromacy 2; rod monochromatism 2; RMCH2; [-]	An achromatopsia that has_material_basis_in homozy..[+] An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11. [-]	1 articles
achromatopsia 3	ACHM1; Pingelapese blindness; RMCH1; rod monochrom.. [+] ACHM1; Pingelapese blindness; RMCH1; rod monochromacy 1; ACHM3; rod monochromatism 1; [-]	An achromatopsia that has_material_basis_in homozy..[+] An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2. [-]	1 articles
achromatopsia 4	ACHM4;	An achromatopsia that has_material_basis_in homozy..[+] An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the GNAT2 gene on chromosome 1p13. [-]
achromatopsia 7	ACHM7;	An achromatopsia that has_material_basis_in homozy..[+] An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23. [-]
acidophil adenoma	Eosinophil adenoma;	n_a
acinar cell carcinoma	acinic cell carcinoma; acinar cell carcinoma (morp.. [+] acinic cell carcinoma; acinar cell carcinoma (morphologic abnormality); [-]	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
acinic cell breast carcinoma		n_a
acne	frontalis acne; acne vulgaris; Acne varioliformis;.. [+] frontalis acne; acne vulgaris; Acne varioliformis; [-]	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 deficiency; acquired colour .. [+] acquired color vision deficiency; acquired colour vision deficiencies; acquired colour vision deficiency; acquired color vision deficiencies; acquired colour blindness; [-]	n_a
acquired gastric outlet stenosis	adult hypertrophic pyloric stenosis; acquired hype.. [+] adult hypertrophic pyloric stenosis; acquired 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; Keratoderma, acquired; acquired keratoderma; acquired keratoderma NOS (disorder); Keratoderma - acquired; [-]	n_a
acquired immunodeficiency syndrome	AIDS; acquired immune deficiency syndrome; acquire.. [+] AIDS; acquired immune deficiency syndrome; acquired Immune deficiency; [-]	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. [-]	49 articles
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; Stenosis of n.. [+] acquired nasolacrimal duct stenosis; Stenosis of nasolacrimal duct, acquired; Tear duct - acquired stenosis; acquired stenosis of nasolacrimal duct; [-]	n_a
acquired thrombocytopenia	acquired thrombocytopenia (disorder); secondary th.. [+] acquired thrombocytopenia (disorder); secondary thrombocytopenia; secondary thrombocytopenia NOS; secondary thrombocytopenia NOS (disorder); [-]	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. [-]	1 articles
acrocephalosyndactylia	Apert syndrome;	A synostosis that results_in craniosynostosis and ..[+] A synostosis that results_in craniosynostosis and syndactyly. [-]	2 articles
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		n_a	5 articles
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 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. [-]
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, 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. [-]
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; [-]	n_a
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, 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. [-]

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