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Disease	Synonyms	Description	Articles
hereditary spastic paraplegia 9A	autosomal dominant spastic paraplegia 9A; autosoma.. [+] autosomal dominant spastic paraplegia 9A; autosomal dominant complex spastic paraplegia type 9A; AD-SPG9A; Cataracts motor neuropathy-short stature-skeletal anomalies syndrome; cataracts with motor neuronopathy, short stature and skeletal abnormalities; spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux; SPG9A; spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. [-]
hereditary spastic paraplegia 9B	autosomal recessive spastic paraplegia 9B; autosom.. [+] autosomal recessive spastic paraplegia 9B; autosomal recessive complex spastic paraplegia type 9B; SPG9B [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. [-]
rhizomelic chondrodysplasia punctata type 3	Alkylglycerone-Phosphate Synthase Deficiency; Alky.. [+] Alkylglycerone-Phosphate Synthase Deficiency; Alkyldihydroxyacetonephosphate Synthase Deficiency; Agps Deficiency; Rcdp3 [-]	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 AGPS gene on chromosome 2q31.2. [-]
polycystic kidney disease 1	Apkd1; Pkd1; Polycystic Kidney Disease, Adult, Typ.. [+] Apkd1; Pkd1; Polycystic Kidney Disease, Adult, Type I [-]	A autosomal dominant polycystic kidney disease tha..[+] A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3. [-]	4 articles
polycystic kidney disease 2	Apkd2; Pkd2; Polycystic Kidney Disease, Adult, Typ.. [+] Apkd2; Pkd2; Polycystic Kidney Disease, Adult, Type II [-]	A autosomal dominant polycystic kidney disease tha..[+] A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1. [-]	3 articles
polycystic kidney disease 3	Apkd3; Pkd3; Polycystic Kidney Disease, Adult, Typ.. [+] Apkd3; Pkd3; Polycystic Kidney Disease, Adult, Type III [-]	A autosomal dominant polycystic kidney disease tha..[+] A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the GANAB gene on chromosome 11q12.3. [-]
congenital stationary night blindness 1B	autosomal recessive complete congenital stationary.. [+] autosomal recessive complete congenital stationary night blindness; congenital stationary night blindness 1B autosomal recessive; CSNB1B [-]	A congenital stationary night blindness characteri..[+] A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35. [-]
nemaline myopathy 5A	Amish nemaline myopathy; ANM; NEM5; nemaline myopa.. [+] ANM; Amish nemaline myopathy; NEM5; nemaline myopathy 5, Amish type [-]	A nemaline myopathy that has_material_basis_in aut..[+] A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous mutation in the TNNT1 gene on chromosome 19q13, with infantile onset. [-]
Gaucher's disease type I	Acid Beta-Glucosidase Deficiency; Gaucher Disease,.. [+] Acid Beta-Glucosidase Deficiency; Gaucher Disease, Noncerebral Juvenile; Gba Deficiency; GD I; Glucocerebrosidase Deficiency; GD1 [-]	A Gaucher's disease characterized by absence of pr..[+] A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. [-]
hemochromatosis type 4	autosomal dominant hereditary hemochromatosis; fer.. [+] autosomal dominant hereditary hemochromatosis; ferroportin disease; hemochromatosis due to defect in ferroportin; HFE4 [-]	A hemochromatosis that has_material_basis_in heter..[+] A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32. [-]
CADASIL 1	autosomal dominant cerebral arteriopathy with subc.. [+] autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1 [-]	A CADASIL characterized by migraine, strokes, and ..[+] A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. [-]
CADASIL 2	autosomal dominant cerebral arteriopathy with subc.. [+] autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 [-]	A CADASIL characterized by stroke, transient ische..[+] A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26. [-]
hypermethioninemia due to adenosine kinase deficiency	autosomal recessive mental retardation 8; ADK hype.. [+] autosomal recessive mental retardation 8; ADK hypermethioninemia; hypermethioninemia encephalopathy due to adenosine kinase deficiency; hypermethioninemia encephalopathy due to ADK deficiency; MRT8 [-]	A hypermethioninemia characterized by autosomal re..[+] A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22. [-]
platelet-type bleeding disorder 15	autosomal dominant macrothrombocytopenia ACTN1-rel.. [+] autosomal dominant macrothrombocytopenia ACTN1-related; BDPLT15 [-]	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	autosomal dominant thrombocytopenia with platelet .. [+] autosomal dominant thrombocytopenia with platelet secretion defect; BDPLT20 [-]	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. [-]
maturity-onset diabetes of the young type 5	atypical FJHN; atypical familial juvenile hyperuri.. [+] atypical FJHN; atypical familial juvenile hyperuricemic nephropathy; CAKUT with diabetes; congenital anomalies of the kidney and urinary tract with diabetes; familial hypoplastic glomerulocystic kidney; hypoplastic type glomerulocystic kidney disease; MODY5; renal cysts and diabetes syndrome; RCAD [-]	A maturity-onset diabetes of the young characteriz..[+] A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12. [-]	2 articles
Prinzmetal angina	angina inversa; Prinzmetal's angina; Prinzmetal's .. [+] angina inversa; Prinzmetal's angina; Prinzmetal's variant angina; variant angina; variant angina pectoris [-]	A coronary artery vasospasm characterized by spasm..[+] A coronary artery vasospasm characterized by spasms of the coronary arteries that occur while at rest, generally late at night or early in the morning, resulting in severe chest pain with preserved exercise capacity. [-]
Castleman disease	angiofollicular lymph node hyperplasia; angiofolli.. [+] angiofollicular lymph node hyperplasia; angiofollicular lymph hyperplasia; giant lymph node hyperplasia; lymphoid hamartoma [-]	A lymphoproliferative syndrome characterized by on..[+] A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically. [-]
myofibrillar myopathy 9	autosomal dominant distal myopathy with early resp.. [+] 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; proximal myopathy with early respiratory muscle involvement [-]	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. [-]
X-linked distal spinal muscular atrophy 3	ATP7A-related distal motor neuropathy; DSMAX; SMAX.. [+] ATP7A-related distal motor neuropathy; DSMAX; SMAX3; X-linked distal hereditary motor neuropathy type 3; X-linked dSMA3; X-linked dHMN3; X-linked recessive distal spinal muscular atrophy [-]	A spinal muscular atrophy characterized by slowly ..[+] A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1. [-]
frontotemporal dementia and/or amyotrophic lateral sclerosis 7	AMYOTROPHIC LATERAL SCLEROSIS 17 (FORMERLY); AMYOT.. [+] AMYOTROPHIC LATERAL SCLEROSIS 17 (FORMERLY); AMYOTROPHIC LATERAL SCLEROSIS; ALS17 (FORMERLY); amyotrophic lateral sclerosis type 17; CHMP2B-related frontotemporal dementia; FTD3; CHMP2B-RELATED; chromosome 3-linked frontotemporal dementia; FRONTOTEMPORAL DEMENTIA; FTDALS7 [-]	A frontotemporal dementia and/or amyotrophic later..[+] A frontotemporal dementia and/or amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2. [-]
Sveinsson chorioretinal atrophy	atrophia areata; helicoid peripapillary chorioreti.. [+] atrophia areata; helicoid peripapillary chorioretinal degeneration; HPCD; SCRA; peripapillary chorioretinal degeneration, Icelandic type [-]	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. [-]
palmoplantar keratoderma and congenital alopecia 1	autosomal dominant palmoplantar keratoderma and co.. [+] autosomal dominant palmoplantar keratoderma and congenital alopecia; autosomal dominant palmoplantar hyperkeratosis and congenital alopecia; keratoderma-hypotrichosis-leukonychia totalis syndrome; palmoplantar keratoderma and congenital alopecia, Stevanovic type; PPK-CA, Stevanovic type; PPKCA Stevanovic type; PPKCA1 [-]	An ectodermal dysplasia characterized by autosomal..[+] An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31. [-]
palmoplantar keratoderma and congenital alopecia 2	autosomal recessive palmoplantar keratoderma and c.. [+] autosomal recessive palmoplantar keratoderma and congenital alopecia; autosomal recessive palmoplantar hyperkeratosis and congenital alopecia; CASS; cataract-alopecia-sclerodactyly syndrome; palmoplantar keratoderma and congenital alopecia, Wallis type; PPK-CA, Wallis type; PPKCA Wallis type; PPKCA2 [-]	An ectodermal dysplasia characterized by autosomal..[+] An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation. [-]
Parkinson's disease 3	autosomal dominant Parkinson disease 3; autosomal .. [+] autosomal dominant Parkinson disease 3; autosomal dominant Lewy body Parkinson disease 3; PARK3; Parkinson disease 3 [-]	A late onset Parkinson's disease characterized by ..[+] A late onset Parkinson's disease characterized by mean age of onset of 59 years and that has_material_basis_in mutation in a locus in the 2p13 chromosome region. [-]
vestibular schwannomatosis	ACN; acoustic neurofibromatosis; bilateral acousti.. [+] acoustic neurofibromatosis; ACN; bilateral acoustic neurinoma; bilateral acoustic schwannomas; central neurofibromatosis; familial acoustic neuromas; NF2; BANF; bilateral acoustic neurofibromatosis; neurofibromatosis type II; neurofibromatosis 2; NF2-related schwannomatosis; schwannomatosis 3; SWN3; SWNV [-]	A schwannomatosis characterized by bilateral vesti..[+] A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2. [-]
postaxial acrofacial dysostosis	acrofacial dysostosis, Genee-Wiedmann type; Miller.. [+] acrofacial dysostosis, Genee-Wiedmann type; Miller syndrome; POADS; Postaxial acrodysostosis; mandibulfacial dysostosis with postaxial limb anomalies [-]	A syndrome characterized by severe micrognathia, c..[+] A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2. [-]
Boucher-Neuhauser syndrome	ataxia-hypogonadism-choroidal dystrophy syndrome	A syndrome characterized by spinocerebellar ataxia..[+] A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. [-]
speech-language disorder-1	articulatory apraxia; childhood apraxia of speech; .. [+] articulatory apraxia; childhood apraxia of speech; developmental apraxia of speech; developmental verbal dyspraxia; speech and language disorder with orofacial dyspraxia; speech-language disorder type 1; CAS [-]	A speech disorder characterized by severe orofacia..[+] A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1. [-]
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	autosomal recessive sensory ataxic neuropathy with.. [+] autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions; SANDO [-]	A mitochondrial metabolism disease characterized b..[+] A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1. [-]
fetal akinesia deformation sequence syndrome	arthrogryposis multiplex congenita-pulmonary hypop.. [+] arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome; FADS; fetal akinesia sequence; foetal akinesia deformation sequence syndrome; foetal akinesia sequence; Pena-Shokeir syndrome type 1 [-]	A syndrome characterized by decreased fetal moveme..[+] A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction. [-]
X-linked hypoparathyroidism	agenesis of parathyroid glands; HYPX	A hypoparathyroidism that has_material_basis_in mu..[+] A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3. [-]
mucopolysaccharidosis type IIIC	Acetyl-CoA alpha-glucosaminide acetyltransferase d.. [+] Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency; Heparan-alpha-glucosaminide N-acetyltransferase deficiency; HGSNAT deficiency; MPS3C; MPSIIIC; Mucopolysaccharidosis type 3C; mucopolysaccharidosis type IIIC (Sanfilippo C); Sanfilippo syndrome type C [-]	A mucopolysaccharidosis III that has_material_basi..[+] A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1. [-]
congenital dyserythropoietic anemia type III	anemia with multinucleated erythroblasts; anaemia .. [+] anemia with multinucleated erythroblasts; anaemia with multinucleated erythroblasts; CDA III; CDAN3; Congenital dyserythropoietic anemia type 3; hereditary benign erythroreticulosis; CDA type 3; CDA type III; Congenital dyserythropoietic anaemia type 3; congenital dyserythropoietic anaemia type III [-]	A congenital dyserythropoietic anemia characterize..[+] A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts that has_material_basis_in heterozygous mutation in an 11 cM interval within chromosome 15q21-q25. [-]
optic atrophy 3	autosomal dominant optic atrophy and cataract; aut.. [+] autosomal dominant optic atrophy and cataract; autosomal dominant optic atrophy type 3; autosomal dominant optic atrophy 3; ADOAC; OPA3; optic atrophy 3 with cataract [-]	An optic atrophy characterized by optic atrophy an..[+] An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in the OPA3 gene on chromosome 19q13.32. [-]
progressive myoclonus epilepsy 4	action myoclonus-renal failure syndrome; AMRF; EPM.. [+] AMRF; action myoclonus-renal failure syndrome; EPM4; Myoclonus-nephropathy syndrome [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1. [-]
2-aminoadipic 2-oxoadipic aciduria	AMOXAD; alpha-aminoadipic aciduria	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14. [-]
SHORT syndrome	Aarskog-Ose-Pande syndrome; Lipodystrophy-Rieger a.. [+] Aarskog-Ose-Pande syndrome; Lipodystrophy-Rieger anomaly-diabetes syndrome; Rieger anomaly-partial lipodystrophy syndrome; short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay [-]	A syndrome of multiple anomalies whose name stands..[+] A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13. [-]
combined oxidative phosphorylation deficiency 2	agenesis of corpus callosum with dysmorphism and f.. [+] agenesis of corpus callosum with dysmorphism and fatal lactic acidosis; COXPD2 [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS16 gene on chromosome 10q22.2. [-]
multicentric carpotarsal osteolysis syndrome	autosomal dominant multicentric osteolysis; heredi.. [+] autosomal dominant multicentric osteolysis; hereditary osteolysis of carpal bones with or without nephropathy; idiopathic multicentric osteolysis with or without nephropathy; MCTO; multicentric carpo-tarsal osteolysis with or without nephropathy; multicentric osteolysis nephropathy [-]	A syndrome characterized by progressive loss of bo..[+] A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. [-]
Guttmacher syndrome	autosomal dominant preaxial deficiency, postaxial .. [+] autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias; preaxial deficiency-postaxial polydactyly-hypospadias syndrome [-]	A syndrome characterized by preaxial deficiencies ..[+] A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.2. [-]
Charcot-Marie-Tooth disease type 2A2B	autosomal recessive Charcot-Marie-Tooth disease, O.. [+] autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type; AR-CMT2, Ouvrier type; Charcot-Marie-Tooth disease, axonal, type 2A2B; CMT2A2B; SEOAN due to MFN2 deficiency; severe early-onset axonal neuropathy due to MFN2 deficiency [-]	A Charcot-Marie-Tooth disease type 2 characterized..[+] A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22. [-]
Charcot-Marie-Tooth disease type 2DD	ATP1A1-related CMT2; ATP1A1-related autosomal domi.. [+] ATP1A1-related CMT2; ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease, axonal, type 2DD; Charcot-Marie-Tooth neuropathy, type 2DD; CMT2DD [-]	A Charcot-Marie-Tooth disease type 2 characterized..[+] A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1. [-]
hypoplastic or aplastic tibia with polydactyly	absent tibia-polydactyly syndrome; absence of tibi.. [+] absent tibia-polydactyly syndrome; absence of tibia with polydactyly; hypoplastic tibiae-postaxial polydactyly syndrome; tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome; Werner mesomelic syndrome [-]	A syndrome characterized by preaxial polydactyly o..[+] A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of the LMBR1 gene on chromosome 7q36.3. [-]
Weyers acrofacial dysostosis	acrofacial dysostosis, Weyers type; WAD; Weyers ac.. [+] acrofacial dysostosis, Weyers type; WAD; Weyers acrodental dysostosis; Curry-Hall syndrome [-]	An acrofacial dysostosis characterized by dental a..[+] An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2. [-]
Gillespie syndrome	aniridia, cerebellar ataxia and mental deficiency; .. [+] aniridia, cerebellar ataxia and mental deficiency; aniridia-cerebellar ataxia-intellectual disability syndrome; GLSP [-]	A syndrome characterized by iris hypoplasia, conge..[+] A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the ITPR1 gene on chromosome 3p26.1. [-]
Behr syndrome	Abortive cerebellar ataxia (BEHRS); optic atrophy .. [+] Abortive cerebellar ataxia (BEHRS); optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss; BEHRS; optic atrophy, infantile hereditary, Behr complicated form of [-]	A nervous system disease characterized by early-on..[+] A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29. [-]
hereditary arterial and articular multiple calcification syndrome	arterial calcification due to deficiency of CD73; .. [+] arterial calcification due to deficiency of CD73; arterial calcification and distal joint calcification; arterial calcification due to CD73 deficiency; arterial calcification due to deficiency of CD73:ACDC; calcification of joints and arteries; CALJA [-]	A syndrome characterized by adult onset of calcifi..[+] A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in the NT5E gene on chromosome 6q14.3. [-]
carboxypeptidase N deficiency	anaphylotoxin inactivator deficiency; deficiency o.. [+] anaphylotoxin inactivator deficiency; deficiency of carboxypeptidase B [-]	A plasma protein metabolism disease characterized ..[+] A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in the CPN1 gene on chromosome 10q24.2. [-]
Greenberg dysplasia	autosomal recessive lethal chondrodystrophy with c.. [+] autosomal recessive lethal chondrodystrophy with congenital hydrops; GRBGD; Greenberg skeletal dysplasia; HEM dysplasia; hydrops-ectopic calcification-motheaten syndrome; Skeletal dysplasia, Greenberg type; hydrops, ectopic calcification, moth-eaten skeletal dysplasia [-]	An inherited metabolic disorder characterized by a..[+] An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12. [-]

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