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Disease	Synonyms	Description
patterned macular dystrophy 1	butterfly-shaped pigmentary maculary dystrophy 1; .. [+] butterfly-shaped pigmentary maculary dystrophy 1; MDPT1 [-]	A patterned macular dystrophy characterized by bil..[+] A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the PRPH2 gene on chromosome 6p21. [-]
hypoparathyroidism-deafness-renal disease syndrome	Barakat syndrome; HDR syndrome; hypoparathyroidism.. [+] Barakat syndrome; HDR syndrome; hypoparathyroidism, sensorineural deafness, and renal disease [-]	A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14. [-]
renal hypomagnesemia 5 with ocular involvement	bilateral macular coloboma with hypercalciuria; fa.. [+] bilateral macular coloboma with hypercalciuria; familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement; FHHNC with severe ocular involvement; hypercalciuria-bilateral macular coloboma syndrome; Meier-Blumberg-Imahorn syndrome [-]	A hypomagnesemia characterized by autosomal recess..[+] A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has_material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2. [-]
hypervalinemia and hyperleucine-isoleucinemia	branched-chain aminotransferase 2 deficiency	An amino acid metabolic characterized by highly el..[+] An amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13. [-]
progressive familial intrahepatic cholestasis 2	BSEP deficiency; PFIC2	A progressive familial intrahepatic cholestasis ch..[+] A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. [-]
multiple epiphyseal dysplasia 5	bilateral hereditary microepiphyseal dysplasia; BH.. [+] bilateral hereditary microepiphyseal dysplasia; BHMED; EDM5; multiple epiphyseal dysplasia MATN3-related [-]	A multiple epiphyseal dysplasia that has_material_..[+] A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24. [-]
craniolenticulosutural dysplasia	Boyadjiev-Jabs Syndrome; cranio-lenticulo-sutural .. [+] Boyadjiev-Jabs Syndrome; cranio-lenticulo-sutural dysplasia, CLSD [-]	A syndrome in neonates that is characterized by fa..[+] A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects. [-]
primary biliary cholangitis 1	BILIARY CIRRHOSIS, PRIMARY, 1; PBC1	A primary biliary cholangitis that has_material_ba..[+] A primary biliary cholangitis that has_material_basis_in variation at the IL12A locus on chromosome 3q25.33. [-]
primary biliary cholangitis 2	BILIARY CIRRHOSIS, PRIMARY, 2; PBC2	A primary biliary cholangitis that has_material_ba..[+] A primary biliary cholangitis that has_material_basis_in variation at the HLA-DQB1 locus on chromosome 6p21.3. [-]
primary biliary cholangitis 3	BILIARY CIRRHOSIS, PRIMARY, 3; PBC3	A primary biliary cholangitis that has_material_ba..[+] A primary biliary cholangitis that has_material_basis_in variation at the IL12RB2 locus on chromosome 1p31.2. [-]
primary biliary cholangitis 4	BILIARY CIRRHOSIS, PRIMARY, 4; PBC4	A primary biliary cholangitis that has_material_ba..[+] A primary biliary cholangitis that has_material_basis_in variation near the IRF5-TNPO3 locus on chromosome 7q32. [-]
primary biliary cholangitis 5	BILIARY CIRRHOSIS, PRIMARY, 5; PBC5	A primary biliary cholangitis that has_material_ba..[+] A primary biliary cholangitis that has_material_basis_in variation at the ZPBP2 locus on chromosome 17q12-q21. [-]
nevoid basal cell carcinoma syndrome 1	basal cell nevus syndrome 1	A nevoid basal cell carcinoma syndrome that has_ma..[+] A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. [-]
nevoid basal cell carcinoma syndrome 2	basal cell nevus syndrome 2	A nevoid basal cell carcinoma syndrome that has_ma..[+] A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the SUFU gene on chromosome 10q24. [-]
infantile parkinsonism-dystonia 2	Brain dopamine-serotonin vesicular transport disea.. [+] Brain dopamine-serotonin vesicular transport disease; PKDYS2 [-]	A movement disease characterized by parkinsonism, ..[+] A movement disease characterized by parkinsonism, dystonia, poor fine motor skills, and autonomic dysfunction including abnormal sweating, cold extremities, and poor sleep that has_material_basis_in homozygous mutation in the SLC18A2 gene on chromosome 10q25.3. [-]
arrhythmogenic biventricular cardiomyopathy	biventricular ACM	An intrinsic cardiomyopathy characterized by hypok..[+] An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty replacement in both the left and right ventricular myocardium, with ventricular arrhythmias with left and right bundle branch block patterns. [-]
metaphyseal dysplasia	Bakwin-Krida syndrome; Pyle's disease; Pyle-Cohn s.. [+] Bakwin-Krida syndrome; Pyle's disease; Pyle-Cohn syndrome [-]	An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone. [-]
Worth syndrome	benign form of Worth hyperostosis corticalis gener.. [+] benign form of Worth hyperostosis corticalis generalisata with torus platinus; autosomal dominant endosteal hyperostosis; autosomal dominant osteosclerosis; Worth syndrome; Worth's syndrome [-]	A hyperostosis that has_material_basis_in a mutati..[+] A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate. [-]
fibrogenesis imperfecta ossium	Baker's disease	A syndrome that involves abnormality of collagen s..[+] A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures. [-]
myofibrillar myopathy 6	BAG3-related myofibrillar myopathy	A myofibrillar myopathy that has_material_basis_in..[+] A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. [-]
multiple mitochondrial dysfunctions syndrome 2	BOLA3 deficiency; multiple mitochondrial dysfuncti.. [+] BOLA3 deficiency; multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia [-]	A multiple mitochondrial dysfunctions syndrome tha..[+] A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13. [-]
Clark-Baraitser syndrome	Baraitser syndrome; autosomal dominant intellectua.. [+] Baraitser syndrome; autosomal dominant intellectual disability 49; autosomal dominant mental retardation 49; CLABARS [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36. [-]
nephroma	benign nephroma	A kidney benign neoplasm that is located_in the ki..[+] A kidney benign neoplasm that is located_in the kidney cortex. [-]
Elsahy-Waters syndrome	branchioskeletogenital syndrome	A syndrome that is characterized by brachycephaly,..[+] A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation. [-]
diaphyseal medullary stenosis with malignant fibrous histiocytoma	bone dysplasia-medullary fibrosarcoma syndrome; di.. [+] bone dysplasia-medullary fibrosarcoma syndrome; diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome; Hardcastle syndrome [-]	An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21. [-]
low grade glioma	benign glioma	A cell type benign neoplasm that has_material_basi..[+] A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes). [-]
dialysis-related amyloidosis	Beta2-microglobulinic amyloidosis; ABeta2M amyloid.. [+] Beta2-microglobulinic amyloidosis; ABeta2M amyloidosis; Amyloidosis Beta2M; Aβ2M amyloidosis; dialysis-related beta2-microglobulin amyloidosis [-]	An amyloidosis that is characterized by the deposi..[+] An amyloidosis that is characterized by the deposition of amyloid fibrils, principally composed of β2 microglobulins (β2M), in the osteoarticular structures and viscera and that is a serious complication of long-term dialysis therapy. [-]
Teebi hypertelorism syndrome	Brachycephalofrontonasal dysplasia	A syndrome characterized by hypertelorism, promine..[+] A syndrome characterized by hypertelorism, prominent forehead, thick eyebrows, and short nose with broad and depressed features. [-]
hot water epilepsy	bathing epilepsy; water immersion epilepsy	A reflex epilepsy that is characterized by seizure..[+] A reflex epilepsy that is characterized by seizures triggered by the stimulus of bathing with hot water poured over the head. [-]
sarcoma with BCOR genetic alterations	BCOR-Rearranged Sarcoma	A small cell sarcoma that is characterized by the ..[+] A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations. [-]
Schwartz-Jampel syndrome 1	Burton syndrome; Burton skeletal dysplasia; Aberfe.. [+] Burton skeletal dysplasia; Burton syndrome; Aberfeld syndrome; Catel-Hempel syndrome; Catel-Hempel type dysostosis enchondralis metaepiphysaria; myotonic chondrodystrophy; myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Schwartz-Jampel-Aberfeld syndrome; osteochondromuscular dystrophy; Schwartz-Jampel syndrome type 1 [-]	A syndrome characterized by neuromyotonia and chon..[+] A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. [-]
autosomal recessive limb-girdle muscular dystrophy type 2E	Beta-sarcoglycanopathy; LGMD2E; Limb-girdle muscul.. [+] Beta-sarcoglycanopathy; LGMD2E; Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency; muscular dystrophy, limb-girdle, type 2E [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12. [-]
neuronal ceroid lipofuscinosis 3	Batten disease; CLN3; juvenile neuronal ceroid lip.. [+] Batten disease; CLN3; juvenile neuronal ceroid lipofuscinosis [-]	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11. [-]
neurodegeneration with brain iron accumulation 5	BPAN; Beta-Propeller Protein-Associated Neurodegen.. [+] BPAN; Beta-Propeller Protein-Associated Neurodegeneration; SENDA; NBIA5; Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood [-]	A neurodegeneration with brain iron accumulation t..[+] A neurodegeneration with brain iron accumulation that has_material_basis_in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23. [-]
Sugarman brachydactyly	brachydactyly with major proximal phalangeal short.. [+] brachydactyly with major proximal phalangeal shortening [-]	A brachydactyly characterized by a nonarticulating..[+] A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position. [-]
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. [-]
gray platelet syndrome	BDPLT4; GPS; platelet-type bleeding disorder 4; pl.. [+] BDPLT4; GPS; platelet-type bleeding disorder 4; platelet alpha-granule deficiency [-]	A blood platelet disease characterized by selectiv..[+] A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21. [-]
platelet-type bleeding disorder 9	BDPLT9; collagen platelet receptor deficiency; gly.. [+] BDPLT9; collagen platelet receptor deficiency; glycoprotein Ia deficiency; GP Ia deficiency [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2. [-]
platelet-type bleeding disorder 10	BDPLT10; CD36 deficiency; platelet glycoprotein IV.. [+] BDPLT10; CD36 deficiency; platelet glycoprotein IV deficiency [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21. [-]
platelet-type bleeding disorder 14	BDPLT14; thromboxane synthase deficiency	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34. [-]
platelet-type bleeding disorder 19	BDPLT19; severe autosomal recessive macrothrombocy.. [+] BDPLT19; severe autosomal recessive macrothrombocytopenia [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21. [-]
platelet-type bleeding disorder 17	BDPLT17; hereditary thrombasthenia-thrombocytopeni.. [+] BDPLT17; hereditary thrombasthenia-thrombocytopenia [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34. [-]
Quebec platelet disorder	BDPLT5; platelet-type bleeding disorder 5; factor .. [+] BDPLT5; platelet-type bleeding disorder 5; factor V Quebec [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degradation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22. [-]
platelet-type bleeding disorder 18	bleeding disorder due to calcium- and DAG-regulate.. [+] bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency; bleeding disorder due to CalDAG-GEFI deficiency; BDPLT18 [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13. [-]
Scott syndrome	BDPLT7; bleeding abnormality due to deficiency of .. [+] BDPLT7; bleeding abnormality due to deficiency of platelet biding of factor X; familial prothrombin consumption inhibitor; platelet-type bleeding disorder 7; prothrombin consumption deficiency; SCTS; familial prothrombin conversion defect [-]	A blood coagulation disease characterized by autos..[+] A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12. [-]
platelet-type bleeding disorder 15	BDPLT15; autosomal dominant macrothrombocytopenia .. [+] BDPLT15; autosomal dominant macrothrombocytopenia ACTN1-related [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q. [-]
platelet-type bleeding disorder 20	BDPLT20; autosomal dominant thrombocytopenia with .. [+] BDPLT20; autosomal dominant thrombocytopenia with platelet secretion defect [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12. [-]
platelet-type bleeding disorder 3	BDPLT3; PT-VWD; von Willebrand disease platelet-ty.. [+] BDPLT3; PT-VWD; von Willebrand disease platelet-type; pseudo-von Willebrand disease; platelet type-von Willebrand disease [-]	A blood platelet disease characterized by enhanced..[+] A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2. [-]
platelet-type bleeding disorder 11	BDPLT11; glycoprotein VI deficiency; GP VI deficie.. [+] BDPLT11; glycoprotein VI deficiency; GP VI deficiency [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13. [-]
platelet-type bleeding disorder 12	BDPLT12; PGHS1 deficiency; platelet cyclooxygenase.. [+] BDPLT12; PGHS1 deficiency; platelet cyclooxygenase 1 deficiency; platelet prostaglandin-endoperoxide synthase 1 deficiency; platelet COX1 deficiency [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity. [-]

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