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Disease	Synonyms	Description
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	Pascual-Castroviejo syndrome; Cerebro-facio-thorac.. [+] Pascual-Castroviejo syndrome; Cerebro-facio-thoracic dysplasia; Cerebrofaciothoracic dysplasia; TMCO1 defect syndrome [-]	A syndrome that is characterized by abnormal devel..[+] A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalities, and delayed development of speech and movement (motor) skills. [-]
Nestor-Guillermo progeria syndrome	Progeria syndrome, childhood-onset, with osteolysi.. [+] Progeria syndrome, childhood-onset, with osteolysis [-]	A progeroid syndrome that is characterized by lipo..[+] A progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life and that has_material_basis_in homozygous mutation in the BANF1 gene on chromosome 11q13. Onset is after 2 years of age. [-]
renal coloboma syndrome	papillorenal syndrome; papillo-renal syndrome, opt.. [+] papillorenal syndrome; papillo-renal syndrome, optic nerve coloboma with renal disease; CAKUT with or without ocular abnormalities; coloboma of optic nerve with renal disease; 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 [-]	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; infantile-onset multisystem inflammatory disease; IOMID syndrome; neonatal-onset multisystem inflammatory disease; NOMID syndrome [-]	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. [-]
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; fertile eunuch syndrome; leydig cell hypoplasia due to LHB deficiency; Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency [-]	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 [-]	A glycogen storage disease characterized by autoso..[+] A glycogen storage disease characterized by autosomal dominant inheritance of glycogenosis confined to the heart, hypoglycemia and cyanosis that has material_basis_in heterozygous mutation in the PRKAG2 gene on chromosome 7q36. [-]
Bh4-deficient hyperphenylalaninemia A	PTS deficiency; 6-pyruvoyl-tetrahydropterin syntha.. [+] PTS deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency; HPABH4A; hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by autosomal recessive inheritance of hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has material_basis_in mutation in the PTS gene on chromosome 11q23.1. [-]
Nasu-Hakola disease	progressive dementia with lipomembranous polycysti.. [+] progressive dementia with lipomembranous polycystic osteodysplasia; presenile dementia with bone cysts; polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; PLO-SL; 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 characterized by au..[+] A hereditary retinal dystrophy characterized by autosomal dominant inheritance of loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life that has_material_basis_in heterozygous mutation in the TIMP3 gene on chromosome 22q12. [-]
camptodactyly-arthropathy-coxa vara-pericarditis syndrome	pericarditis-arthropathy-camptodactyly syndrome; P.. [+] pericarditis-arthropathy-camptodactyly syndrome; PAC syndrome; arthropathy-camptodactyly syndrome; CACP; CACP syndrome; camptodactyly-arthropathy-pericarditis syndrome; CAP syndrome; congenital familial hypertrophic synovitis; familial fibrosing serositis; Jacobs 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. [-]
dilated cardiomyopathy with woolly hair and keratoderma	palmoplantar keratoderma with left ventricular car.. [+] palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair; Carvajal syndrome; DCWHK [-]	An autosomal recessive disease characterized by au..[+] An autosomal recessive disease characterized by autosomal recessive inheritance of dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the DSP gene on chromosome 6p24. [-]
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; DASS; .. [+] platyspondyly with amelogenesis imperfecta; DASS; dental anomalies and short stature; selective tooth agenesis 5; STHAG6 [-]	An autosomal recessive disease characterized by sk..[+] An autosomal recessive disease 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 homozygous or compound heterozygous mutation in the LTBP3 gene on chromosome 11q13. [-]
achromatopsia 3	Pingelapese blindness; ACHM1; ACHM3; RMCH1; rod mo.. [+] Pingelapese blindness; ACHM1; ACHM3; RMCH1; rod monochromacy 1; 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. [-]
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 I; short rib-polydactyly syndrome, type IIB; short-rib thoracic dysplasia 3 with or without polydactyly; SRPS1; SRPS2B; SRPS3; SRTD3; Verma-Naumoff syndrome [-]	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; SRPS2A; SRTD6 [-]	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 disease slow nerve conduction type linked to Duffy; Charcot-Marie-Tooth neuropathy type 1B; CMT1B; hereditary motor and sensory neuropathy IB; HMSN IB; HMSN1B [-]	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). [-]
cataract 32 multiple types	posterior polar cataract 5; anterior polar catarac.. [+] posterior polar cataract 5; anterior polar cataract 1; CTAA1; CTPP5; CTRCT32 [-]	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; CTPP2; CTRCT16	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; CPP3; CTPP3; CTRCT31	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	primary calpainopathy; pelvofemoral muscular dystr.. [+] primary calpainopathy; pelvofemoral muscular dystrophy; Leyden-Moebius muscular dystrophy; LGMD2A; limb-girdle muscular dystrophy due to calpain deficiency; muscular dystrophy, limb-girdle, type 2A [-]	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; DM.. [+] primary adhalinopathy; Alpha-sarcoglycanopathy; DMDA2; Duchenne-like autosomal recessive muscular dystrophy type 2; LGMD2D; muscular dystrophy, limb-girdle, type 2D [-]	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; 600119) on chromosome 17q. [-]
autosomal dominant limb-girdle muscular dystrophy type 1A	proximal muscular dystrophy type 1A; LGMD1A; limb-.. [+] proximal muscular dystrophy type 1A; LGMD1A; limb-girdle muscular dystrophy due to myotilin deficiency; muscular dystrophy limb-girdle type 1A [-]	An autosomal dominant limb-girdle muscular dystrop..[+] An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the gene encoding myotilin (MYOT1) on chromosome 5q31. [-]
autosomal dominant limb-girdle muscular dystrophy type 1B	proximal muscular dystrophy type 1B; LGMD1B; Limb-.. [+] proximal muscular dystrophy type 1B; LGMD1B; Limb-girdle muscular dystrophy due to lamin A/C deficiency; muscular dystrophy, limb-girdle type 1B [-]	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; OI3; osteogenesis imperfecta type III [-]	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; apple peel syndrome.. [+] primary ciliary dyskinesia 31; apple peel syndrome with microcephaly and ocular anomalies; CILD31; jejunal atresia with microcephaly and ocular anomalies; lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome [-]	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; EPMR; northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant [-]	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; Dihydroxyacetonephosphate Acyltransferase Deficiency; Glyceronephosphate O-Acyltransferase Deficiency; Gnpat 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 Disease, Infantile, Type I; Poly.. [+] Polycystic Kidney Disease, Infantile, Type I; Polycystic Kidney and Hepatic Disease 1; 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; holoprosencephaly with microphthalmia and first branchial arch anomalies; HPE9 [-]	A holoprosencephaly that has_material_basis_in het..[+] A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14. [-]
infantile hypophosphatasia	phosphoethanolaminuria; Hops	A hypophosphatasia that has_material_basis_in an a..[+] A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of ALPL on chromosome 1p36.12. [-]
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-type bleeding disorder 4; platelet alpha-.. [+] platelet-type bleeding disorder 4; platelet alpha-granule deficiency; BDPLT4; GPS [-]	An inherited blood coagulation disease characteriz..[+] An inherited blood coagulation 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 [-]	An inherited blood coagulation disease characteriz..[+] An inherited blood coagulation 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 degredation 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; BDPLT7; bleeding abnormality due to deficiency of platelet biding of factor X; familial prothrombin consumption inhibitor; familial prothrombin conversion defect; SCTS [-]	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; HFTC; HHS; hypercalcemic tumoral calcinosis; hyperostosis with hyperphosphatemia; hyperphosphatemia hyperostosis; hyperphosphatemia hyperostosis syndrome; hyperphosphatemia tumoral calcinosis; lipocalcinogranulomatosis; morbus Teutschlaender; 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; MCD; multicentric giant lymph node hyperplasia [-]	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. [-]
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. [-]
neurofibromatosis 1	Peripheral Neurofibromatosis; neurofibromatosis ty.. [+] Peripheral Neurofibromatosis; neurofibromatosis type I; NF1; Recklinghausen's neurofibromatosis; von Recklinghausen Disease [-]	A neurofibromatosis characterized by multiple cafe..[+] A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone. [-]
myopathy with extrapyramidal signs	proximal myopathy with extrapyramidal signs; MPXPS.. [+] proximal myopathy with extrapyramidal signs; MPXPS [-]	A myopathy characterized by early childhood onset ..[+] A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1. [-]
Torrance type platyspondylic dysplasia	PLSD-T; PLSDT; platyspondylic lethal skeletal dysp.. [+] PLSDT; PLSD-T; platyspondylic lethal skeletal dysplasia, Torrance type; platyspondylic dysplasia, Torrance-Luton type; lethal short-limbed platyspondylic dwarfism, Torrance type; thanatophoric dysplasia, Torrance variant [-]	An osteochondrodysplasia characterized by decrease..[+] An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. [-]

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