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Disease	Synonyms	Description	Articles
ataxia-telangiectasia-like disorder-2	PCNA-related progressive neurodegenerative photose.. [+] PCNA-related progressive neurodegenerative photosensitivity syndrome [-]	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12. [-]
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome	PHRINL syndrome	A syndrome that is characterized in infants showin..[+] A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33. [-]
renal coloboma syndrome	papillo-renal syndrome, optic nerve coloboma with .. [+] papillo-renal syndrome, optic nerve coloboma with renal disease; papillorenal syndrome; CAKUT with or without ocular abnormalities; congenital anomalies of the kidney and urinary tract with or without ocular abnormalities; optic coloboma, vesicoureteral reflux and renal anomalies; renal-coloboma syndrome with macular abnormalities; coloboma of optic nerve with renal disease [-]	A syndrome characterized by optic nerve coloboma a..[+] A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24. [-]
sitosterolemia	phytosterolemia	An intestinal disease that is characterized by aut..[+] An intestinal disease that is characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21. [-]
CINCA Syndrome	Prieur-Griscelli syndrome; chronic infantile neuro.. [+] Prieur-Griscelli syndrome; chronic infantile neurological cutaneous articular syndrome; chronic neurologic cutaneous and articular syndrome; cryopyrin-associated periodic syndrome 3; neonatal-onset multisystem inflammatory disease; NOMID syndrome; IOMID syndrome; infantile-onset multisystem inflammatory disease [-]	An autoimmune disease characterized by neonatal on..[+] An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q. [-]
episodic kinesigenic dyskinesia 1	Paroxysmal kinesigenic choreoathetosis	A dystonia characterized by recurrent brief involu..[+] A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11. [-]
hypogonadotropic hypogonadism 23 with or without anosmia	Pasqualini syndrome; 46,XY disorder of sex develop.. [+] Pasqualini syndrome; 46,XY disorder of sex development due to LHB deficiency; 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency; 46,XY DSD due to LHB deficiency; 46,XY DSD due to luteinizing hormone subunit beta deficiency; leydig cell hypoplasia due to LHB deficiency; Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency; fertile eunuch syndrome [-]	A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13. [-]
lethal congenital glycogen storage disease of heart	phosphorylase kinase deficiency of heart; fatal co.. [+] phosphorylase kinase deficiency of heart; fatal congenital nonlysosomal cardiac glycogenosis; fatal congenital hypertrophic cardiomyopathy due to glycogenosis; fatal congenital hypertrophic cardiomyopathy due to GSD; fatal congenital nonlysosomal cardiac glycogenosis [-]	A glycogen storage disease characterized by glycog..[+] A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36. [-]
BH4-deficient hyperphenylalaninemia A	PTS deficiency; HPABH4A; hyperphenylalaninemia due.. [+] PTS deficiency; HPABH4A; hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency; tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency [-]	A tetrahydrobiopterin (BH4)-deficient hyperphenyla..[+] A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1. [-]
Nasu-Hakola disease	presenile dementia with bone cysts; PLO-SL; PLOSL; .. [+] PLOSL; PLO-SL; presenile dementia with bone cysts; progressive dementia with lipomembranous polycystic osteodysplasia; polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; NHD; brain-bone-fat disease [-]	A syndrome that is characterized by progressive pr..[+] A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21. [-]
Sorsby's fundus dystrophy	pseudoinflammatory fundus dystrophy of Sorsby; hem.. [+] pseudoinflammatory fundus dystrophy of Sorsby; hemorrhagic macular dystrophy; SFD [-]	A hereditary retinal dystrophy that is characteriz..[+] A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12. [-]
camptodactyly-arthropathy-coxa vara-pericarditis syndrome	pericarditis-arthropathy-camptodactyly syndrome; P.. [+] pericarditis-arthropathy-camptodactyly syndrome; PAC syndrome; CACP; CACP syndrome; congenital familial hypertrophic synovitis; familial fibrosing serositis; arthropathy-camptodactyly syndrome; camptodactyly-arthropathy-pericarditis syndrome; Jacobs syndrome; CAP syndrome [-]	A syndrome that is characterized by congenital or ..[+] A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31. [-]
Carvajal syndrome	palmoplantar keratoderma with left ventricular car.. [+] palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair; Carvajal syndrome; DCWHK; dilated cardiomyopathy with woolly hair and keratoderma [-]	A Naxos disease that is characterized by dilated c..[+] A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24. [-]
cortical dysplasia-focal epilepsy syndrome	Pitt-Hopkins-like syndrome-1; PTHSL1; CDFE syndrom.. [+] PTHSL1; Pitt-Hopkins-like syndrome-1; CDFE syndrome; CDFES [-]	A brain disease that is characterized by cortical ..[+] A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36. [-]
complex cortical dysplasia with other brain malformations 7	polymicrogyria due to TUBB2B mutation; CDCBM7	A complex cortical dysplasia with other brain malf..[+] A complex cortical dysplasia with other brain malformations that is characterized by abnormalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25. [-]
brachyolmia-amelogenesis imperfecta syndrome	platyspondyly with amelogenesis imperfecta; dental.. [+] platyspondyly with amelogenesis imperfecta; dental anomalies and short stature; STHAG6; DASS; selective tooth agenesis 5 [-]	A syndrome characterized by skeletal dysplasia (br..[+] A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13. [-]
achromatopsia 3	Pingelapese blindness; ACHM1; RMCH1; rod monochrom.. [+] Pingelapese blindness; ACHM1; 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
asphyxiating thoracic dystrophy 3	polydactyly with neonatal chondrodystrophy, type I.. [+] polydactyly with neonatal chondrodystrophy, type III; polydactyly with neonatal chondrodystrophy, type I; ATD3; Saldino-Noonan syndrome; short rib-polydactyly syndrome, type IIB; short-rib thoracic dysplasia 3 with or without polydactyly; SRPS1; SRPS2B; SRTD3; Verma-Naumoff syndrome; short rib-polydactyly syndrome, type I; SRPS3 [-]	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. [-]
short-rib thoracic dysplasia 6 with or without polydactyly	polydactyly with neonatal chondrodystrophy, type I.. [+] polydactyly with neonatal chondrodystrophy, type II; Majewski syndrome; short rib-polydactyly syndrome type IIA; SRTD6; SRPS2A [-]	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33. [-]
Charcot-Marie-Tooth disease type 1B	peroneal muscular atrophy; autosomal dominant Char.. [+] peroneal muscular atrophy; autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B; Charcot-Marie-Tooth neuropathy type 1B; CMT1B; hereditary motor and sensory neuropathy IB; HMSN IB; HMSN1B; Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy [-]	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ). [-]	1 articles
cataract 32 multiple types	posterior polar cataract 5; CTAA1; CTPP5; CTRCT32; .. [+] posterior polar cataract 5; CTAA1; CTPP5; CTRCT32; anterior polar cataract 1 [-]	A cataract that has_material_basis_in mutation in ..[+] A cataract that has_material_basis_in mutation in the region 14q22-q23. [-]
cataract 6 multiple types	posterior polar cataract 1; age related cortical c.. [+] posterior polar cataract 1; age related cortical cataract 2; ARCC2; CTPP1; CTRCT6 [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the EPHA2 gene on chromosome 1p36. [-]
cataract 11 multiple types	posterior polar cataract 4; CPP4; CTPP4; CTRCT11	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24. [-]
cataract 16 multiple types	posterior polar cataract 2; CTRCT16; CTPP2	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q. [-]
cataract 31 multiple types	posterior polar cataract 3; CTPP3; CTRCT31; CPP3	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the CHMP4B gene on chromosome 20q11. [-]
autosomal recessive limb-girdle muscular dystrophy type 2A	pelvofemoral muscular dystrophy; primary calpainop.. [+] pelvofemoral muscular dystrophy; primary calpainopathy; Leyden-Moebius muscular dystrophy; limb-girdle muscular dystrophy due to calpain deficiency; muscular dystrophy, limb-girdle, type 2A; LGMD2A [-]	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 the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15. [-]
autosomal recessive limb-girdle muscular dystrophy type 2D	primary adhalinopathy; Alpha-sarcoglycanopathy; Du.. [+] primary adhalinopathy; Alpha-sarcoglycanopathy; Duchenne-like autosomal recessive muscular dystrophy type 2; LGMD2D; muscular dystrophy, limb-girdle, type 2D; DMDA2 [-]	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 alpha-sarcoglycan gene (SGCA) on chromosome 17q. [-]
autosomal dominant limb-girdle muscular dystrophy type 1B	proximal muscular dystrophy type 1B; LGMD1B; muscu.. [+] proximal muscular dystrophy type 1B; LGMD1B; muscular dystrophy, limb-girdle type 1B; Limb-girdle muscular dystrophy due to lamin A/C deficiency [-]	An autosomal dominant limb-girdle muscular dystrop..[+] An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding lamin A/C (LMNA). [-]
osteogenesis imperfecta type 3	progressively deforming osteogenesis imperfecta wi.. [+] progressively deforming osteogenesis imperfecta with normal sclera; osteogenesis imperfecta type III; OI3 [-]	An osteogenesis imperfecta that is characterized b..[+] An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. [-]
osteogenesis imperfecta type 2	perinatal lethal osteogenesis imperfecta congenita.. [+] perinatal lethal osteogenesis imperfecta congenita; OI2; osteogenesis imperfecta type II; Vrolik type of osteogenesis imperfecta [-]	An osteogenesis imperfecta that is characterized b..[+] An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. [-]
Stromme syndrome	primary ciliary dyskinesia 31; CILD31; jejunal atr.. [+] primary ciliary dyskinesia 31; CILD31; jejunal atresia with microcephaly and ocular anomalies; lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome; apple peel syndrome with microcephaly and ocular anomalies [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41. [-]
neuronal ceroid lipofuscinosis 8 northern epilepsy variant	progressive epilepsy-intellectual disability syndr.. [+] progressive epilepsy-intellectual disability syndrome, Finnish type; progressive epilepsy with mental retardation, northern epilepsy; northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant; EPMR [-]	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23. [-]
xeroderma pigmentosum variant type	photosensitivity with defective DNA synthesis; xer.. [+] photosensitivity with defective DNA synthesis; xeroderma pigmentosum with normal DNA repair rates; XPV [-]	A xeroderma pigmentosum characterized by normal DN..[+] A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1. [-]
rhizomelic chondrodysplasia punctata type 1	Peroxisome Biogenesis Disorder 9; Pbd9; Rcdp1	A rhizomelic chondrodysplasia punctata that has_ma..[+] A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3. [-]
rhizomelic chondrodysplasia punctata type 2	Peroxisomal Dihydroxyacetonephosphate Acyltransfer.. [+] Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency; Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency; Dhapat Deficiency; Glyceronephosphate O-Acyltransferase Deficiency; Gnpat Deficiency; Dihydroxyacetonephosphate Acyltransferase Deficiency; Rcdp2 [-]	A rhizomelic chondrodysplasia punctata that has_ma..[+] A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2. [-]
autosomal recessive polycystic kidney disease	Polycystic Kidney and Hepatic Disease 1; Polycysti.. [+] Polycystic Kidney and Hepatic Disease 1; Polycystic Kidney Disease, Infantile, Type I; Pkhd1; Arpkd [-]	A polycystic kidney disease characterized by the p..[+] A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion. [-]
holoprosencephaly 9	pituitary anomalies with holoprosencephaly-like fe.. [+] pituitary anomalies with holoprosencephaly-like features; HPE9; holoprosencephaly with microphthalmia and first branchial arch anomalies [-]	A holoprosencephaly that has_material_basis_in het..[+] A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14. [-]	1 articles
infantile hypophosphatasia	phosphoethanolaminuria; Hops	A hypophosphatasia that has_material_basis_in homo..[+] A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36. [-]
brachydactyly-preaxial hallux varus syndrome	preaxial brachydactyly with hallux varus and thumb.. [+] preaxial brachydactyly with hallux varus and thumb abduction; Christian brachydactyly [-]	A brachydactyly characterized by autosomal dominan..[+] A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges. [-]
Ballard syndrome	Pitt-Williams brachydactyly; Ballard type brachyda.. [+] Pitt-Williams brachydactyly; Ballard type brachydactyly; brachydactyly types B and E combined [-]	A brachydactyly characterized by autosomal dominan..[+] A brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature. [-]
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	psychomotor retardation due to S-adenosylhomocyste.. [+] psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency; hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency [-]	A hypermethioninemia characterized by autosomal re..[+] A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11. [-]
gray platelet syndrome	platelet alpha-granule deficiency; platelet-type b.. [+] platelet alpha-granule deficiency; platelet-type bleeding disorder 4; BDPLT4; GPS [-]	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. [-]
Quebec platelet disorder	platelet-type bleeding disorder 5; BDPLT5; factor .. [+] platelet-type bleeding disorder 5; BDPLT5; 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. [-]
Scott syndrome	prothrombin consumption deficiency; platelet-type .. [+] prothrombin consumption deficiency; platelet-type bleeding disorder 7; familial prothrombin consumption inhibitor; SCTS; bleeding abnormality due to deficiency of platelet biding of factor X; BDPLT7; 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. [-]
hyperphosphatemic familial tumoral calcinosis	primary hyperphosphatemic tumoral calcinosis; PHPT.. [+] primary hyperphosphatemic tumoral calcinosis; PHPTC; cortical hyperostosis with hyperphosphatemia; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome; familial Teutschlaender disease; HHS; hypercalcemic tumoral calcinosis; hyperphosphatemia hyperostosis; hyperphosphatemia hyperostosis syndrome; lipocalcinogranulomatosis; morbus Teutschlaender; HFTC; hyperostosis with hyperphosphatemia; hyperphosphatemia tumoral calcinosis; tumoral calcinosis with hyperphosphatemia [-]	A calcinosis characterized by autosomal recessive ..[+] A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene. [-]
multicentric Castleman disease	PMCD; plasmablastic multicentric Castleman disease.. [+] PMCD; plasmablastic multicentric Castleman disease; multicentric giant lymph node hyperplasia; MCD [-]	A Castleman disease characterized by systemic infl..[+] A Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6. [-]
Dyggve-Melchior-Clausen disease	pseudo-Morquio disease type I; DMC disease	A spondyloepimetaphyseal dysplasia characterized b..[+] A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21. [-]
myofibrillar myopathy 9	proximal myopathy with early respiratory muscle in.. [+] proximal myopathy with early respiratory muscle involvement; autosomal dominant distal myopathy with early respiratory failure; Edstrom myopathy; Hereditary inclusion body myopathy with early respiratory failure; hereditary myopathy with early respiratory failure; HIBM-ERF; HMERF; MFM-titinopathy; MFM9; MPRM; myofibrillar myopathy 9 with early respiratory failure; Myofibrillar myopathy-titinopathy [-]	A myofibrillar myopathy characterized by adult ons..[+] A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. [-]
Sveinsson chorioretinal atrophy	peripapillary chorioretinal degeneration, Icelandi.. [+] peripapillary chorioretinal degeneration, Icelandic type; atrophia areata; helicoid peripapillary chorioretinal degeneration; HPCD; SCRA [-]	An eye disease characterized by presence in the fu..[+] An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in TEAD1 on 11p15.3. [-]
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	parkinsonism-dementia-ALS complex; PDALS; Guam dis.. [+] PDALS; parkinsonism-dementia-ALS complex; Guam disease; Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome; amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam; ALS-PDC; Lytico-Bodig disease [-]	A neurodegenerative disease characterized by chron..[+] A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2. [-]

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