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Disease	Synonyms	Description
syndromic X-linked intellectual disability 5	Fried syndrome; Mental retardation, X-linked syndr.. [+] Fried syndrome; Mental retardation, X-linked syndromic 5; MRX59; MRXS21; Pettigrew syndrome; syndromic X-linked mental retardation 21; syndromic X-linked mental retardation Fried type; X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome; X-linked mental retardation 59; X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22. [-]
hereditary neuropathy with liability to pressure palsies	familial recurrent polyneuropathy; heterozygous mi.. [+] familial recurrent polyneuropathy; heterozygous microdeletion 17p11.2p12; tulip-bulb digger's palsy; current pressure-sensitive neuropathy; HNPP; potato-grubbing palsy; tomaculous neuropathy [-]	A neuropathy characterized by autosomal dominant i..[+] A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12. [-]
developmental and epileptic encephalopathy 9	female restricted epilepsy with mental retardation.. [+] female restricted epilepsy with mental retardation; EIEE9; DEE9; early infantile female-limited epilecptic encephalopathy; early infantile epileptic encephalopathy 9; EFMR; Juberg Hellman syndrome [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22. [-]
pemphigus vulgaris	familial pemphigus vulgaris	A pemphigus characterized by autosomal dominant bl..[+] A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance. [-]
isolated growth hormone deficiency	familial isolated growth hormone deficiency; conge.. [+] familial isolated growth hormone deficiency; congenital IGHD; IGHD; congenital isolated GH deficiency; congenital isolated growth hormone deficiency; non-acquired isolated growth hormone deficiency [-]	A hypopituitarism characterized by abnormally low ..[+] A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones. [-]
isolated growth hormone deficiency type III	Fleisher syndrome; congenital isolated GH deficien.. [+] Fleisher syndrome; congenital isolated GH deficiency type III; growth hormone deficiency with hypogammaglobulinemia; IGHD III; X-linked agammaglobulinemia and isolated growth hormone deficiency; X-linked IGHD; X-linked isolated growth hormone deficiency; congenital IGHD type III; X-linked hypogammaglobulinemia and isolated growth hormone deficiency; congenital isolated growth hormone deficiency type III [-]	An isolated growth hormone deficiency characterize..[+] An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1. [-]
renal hypomagnesemia 3	FHHNC without severe ocular involvement; familial .. [+] FHHNC without severe ocular involvement; familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement; isolated renal hypomagnesemia; primary hypomagnesemia due to defect in renal tubular transport of magnesium; HOMG3; renal hypomagnesemia type 3 [-]	A hypomagnesemia characterized by autosomal recess..[+] A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28. [-]
renal hypomagnesemia 5 with ocular involvement	FHHNC with severe ocular involvement; familial hyp.. [+] FHHNC with severe ocular involvement; familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement; bilateral macular coloboma with hypercalciuria; 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. [-]
legume allergy	Fabaceae allergy	A fruit allergy triggered by Fabaceae (legume) pla..[+] A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product. [-]
advanced sleep phase syndrome 4	familial advanced sleep phase syndrome 4; FASPS4	An advanced sleep phase syndrome that has_material..[+] An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the TIMELESS gene on chromosome 12q13. [-]
immunodeficiency 114	folate-responsive immunodeficiency 114	A primary immunodeficiency disease that is charact..[+] A primary immunodeficiency disease that is characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy and that has_material_basis_in homozygous mutation in the SLC19A1 gene on chromosome 21q22. [-]
hypertrophic cardiomyopathy 27	familial hypertrophic cardiomyopathy 27; CMH27	A familial hypertrophic cardiomyopathy characteriz..[+] A familial hypertrophic cardiomyopathy characterized by biventricular involvement and atypical distribution of hypertrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ALPK3 gene on chromosome 15q25. [-]
autosomal dominant tubulointerstitial kidney disease 2	familial juvenile hyperuricemic nephropathy 2; HNF.. [+] familial juvenile hyperuricemic nephropathy 2; HNFJ2; MCKD2; medullary cystic kidney disease 2 [-]	An autosomal dominant tubulointerstitial kidney di..[+] An autosomal dominant tubulointerstitial kidney disease characterized by adult onset of impaired renal function and salt wasting resulting in chronic renal insufficiency and end-stage renal failure by the sixth decade that has_material_basis_in eterozygous mutation in the MUC1 gene on chromosome 1q22. [-]
autosomal dominant tubulointerstitial kidney disease 4	familial juvenile hyperuricemic nephropathy 4; HNF.. [+] familial juvenile hyperuricemic nephropathy 4; HNFJ4; MCKD4; medullary cystic kidney disease 4 [-]	An autosomal dominant tubulointerstitial kidney di..[+] An autosomal dominant tubulointerstitial kidney disease characterized by early-onset anemia and increased serum uric acid with a bland urinalysis and without proteinuria that has_material_basis_in heterozygous mutation in the renin gene on chromosome 1q32. [-]
autosomal dominant tubulointerstitial kidney disease 5	familial juvenile hyperuricemic nephropathy 5; HNF.. [+] familial juvenile hyperuricemic nephropathy 5; HNFJ5; MCKD5; medullary cystic kidney disease 5 [-]	An autosomal dominant tubulointerstitial kidney di..[+] An autosomal dominant tubulointerstitial kidney disease characterized by the onset of progressive chronic renal disease in the first decades of life that has_material_basis_in heterozygous mutation in the SEC61A1 gene on chromosome 3q21. [-]
autosomal dominant tubulointerstitial kidney disease 6	familial juvenile hyperuricemic nephropathy 6; HNF.. [+] familial juvenile hyperuricemic nephropathy 6; HNFJ6; MCKD6; medullary cystic kidney disease 6 [-]	An autosomal dominant tubulointerstitial kidney di..[+] An autosomal dominant tubulointerstitial kidney disease characterized by the onset of slowly progressive chronic renal failure beginning in mid-to-late adulthood that has_material_basis_in heterozygous mutation in the APOA4 gene on chromosome 11q23. [-]
autosomal dominant tubulointerstitial kidney disease 1	familial juvenile hyperuricemic nephropathy 1; HNF.. [+] familial juvenile hyperuricemic nephropathy 1; HNFJ1; MCKD1; medullary cystic kidney disease 1 [-]	An autosomal dominant tubulointerstitial kidney di..[+] An autosomal dominant tubulointerstitial kidney disease characterized by elevated serum uric acid (hyperuricemia) due to low fractional excretion of uric acid, defective urinary concentrating ability, 'bland' urinary sediment, and progression to end-stage renal failure that has_material_basis_in heterozygous mutation in the gene encoding uromodulin on chromosome 16p12. [-]
intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	FBXO11-related neurodevelopmental disorder; FBXO11.. [+] FBXO11-related neurodevelopmental disorder; FBXO11-related NDD; IDDFBA [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in FBXO11 gene on chromosome 2p16. [-]
ITM2B-related cerebral amyloid angiopathy 1	Familial British Dementia; FBD; Cerebral Amyloid A.. [+] FBD; Familial British Dementia; Cerebral Amyloid Angiopathy, British Type; Presenile Dementia with Spastic Ataxia [-]	A cerebral amyloid angiopathy characterized by ons..[+] A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in heterozygous mutation in the ITM2B gene on chromosome 13q14. [-]
ITM2B-related cerebral amyloid angiopathy 2	Familial Danish Dementia; FDD; Cerebellar Ataxia, .. [+] FDD; Familial Danish Dementia; Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis; Heredopathia Ophthalmootoencephalica; HOOE [-]	A cerebral amyloid angiopathy characterized by ata..[+] A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2. [-]
Coffin-Siris syndrome 1	fifth digit syndrome; MRD12; autosomal dominant me.. [+] fifth digit syndrome; MRD12; autosomal dominant mental retardation 12; CSS1 [-]	A Coffin-Siris syndrome that has_material_basis_in..[+] A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3. [-]
progressive familial intrahepatic cholestasis 1	FIC1 deficiency; PFIC1	A progressive familial intrahepatic cholestasis ch..[+] A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. [-]
Loeys-Dietz syndrome 2	familial throacic aortic aneurysm 3; AAT3; LDS2; M.. [+] familial throacic aortic aneurysm 3; AAT3; LDS2; Marfan syndrome type II [-]	A Loeys-Dietz syndrome that has_material_basis_in ..[+] A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24. [-]
Loeys-Dietz syndrome 1	Furlong syndrome; familial throacic aortic aneurys.. [+] Furlong syndrome; familial throacic aortic aneurysm 5; AAT5; LDS1 [-]	A Loeys-Dietz syndrome that has_material_basis_in ..[+] A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22. [-]
primary coenzyme Q10 deficiency 6	familial steroid-resistant nephrotic syndrome with.. [+] familial steroid-resistant nephrotic syndrome with sensorineural deafness; coenzyme Q10 deficiency, primary, 6; COQ10D6 [-]	A primary coenzyme Q10 deficiency that has_materia..[+] A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3. [-]
Lynch syndrome 1	familial nonpolyposis colon cancer type 1; FCC1; C.. [+] FCC1; familial nonpolyposis colon cancer type 1; COCA1; hereditary nonpolyposis colorectal cancer type 1; HNPCC1 [-]	A Lynch syndrome that has_material_basis_in hetero..[+] A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16. [-]
hereditary nonpolyposis colorectal cancer type 2	familial nonpolyposis colon cancer type 2; FCC2; C.. [+] FCC2; familial nonpolyposis colon cancer type 2; COCA2; HNPCC2 [-]	A Lynch syndrome that has_material_basis_in hetero..[+] A Lynch syndrome that has_material_basis_in heterozygous mutation in the MLH1 gene on chromosome 3p22.2. [-]
multiple mitochondrial dysfunctions syndrome	fatal multiple mitochondrial dysfunction syndrome; .. [+] fatal multiple mitochondrial dysfunction syndrome [-]	A mitochondrial metabolism disease that is charact..[+] A mitochondrial metabolism disease that is characterized by reduced function of more than one stage of energy production resulting from mitochondria impairment. [-]
spinal neurofibromatosis	FNSF; familial spinal neurofibromatosis; SNF	A neurofibromatosis 1 characterized by bilateral n..[+] A neurofibromatosis 1 characterized by bilateral neurofibromas of all spinal roots. [-]
rhabdoid tumor predisposition syndrome	familial posterior fossa brain tumor syndrome of i.. [+] familial posterior fossa brain tumor syndrome of infancy; rhabdoid predisposition syndrome; RTPS [-]	A syndrome characterized by a markedly increased r..[+] A syndrome characterized by a markedly increased risk for the development of rhabdoid tumors, rare and highly aggressive malignant tumors occurring in almost any anatomical location predominantly in infants and young children. [-]
myofibrillar myopathy 5	filaminopathy	A myofibrillar myopathy that has_material_basis_in..[+] A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32. [-]
mitochondrial DNA depletion syndrome 9	fatal infantile lactic acidosis	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11. [-]
mitochondrial DNA depletion syndrome 13	FBXL4-related encephalomyopathic mitochondrial DNA.. [+] FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome; FBXL4 deficiency; mitochondrial DNA depletion syndrome 13, encephalomyopathic type [-]	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16. [-]
bicuspid aortic valve disease	Familial bicuspid aortic valve	An aortic valve disease that is characterized by t..[+] An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. [-]
mitochondrial complex IV deficiency nuclear type 2	fatal infantile cardioencephalomyopathy due to cyt.. [+] fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1; MC4DN2 [-]	A COX deficiency, infantile mitochondrial myopathy..[+] A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13. [-]
mitochondrial complex IV deficiency nuclear type 6	fatal infantile cardioencephalomyopathy due to cyt.. [+] fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2; MC4DN6 [-]	A COX deficiency, infantile mitochondrial myopathy..[+] A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24. [-]
mitochondrial complex IV deficiency nuclear type 9	fatal infantile cardioencephalomyopathy due to cyt.. [+] fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3; MC4DN9 [-]	A COX deficiency, infantile mitochondrial myopathy..[+] A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11. [-]
mitochondrial complex IV deficiency nuclear type 13	fatal infantile cardioencephalomyopathy due to cyt.. [+] fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4; MC4DN13 [-]	A COX deficiency, infantile mitochondrial myopathy..[+] A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42. [-]
trimethylaminuria	fish-odor syndrome	An inherited metabolic disorder characterized by t..[+] An inherited metabolic disorder characterized by the inability to break down trimethylamine and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24. [-]
nephrotic syndrome type 1	Finnish congenital nephrosis	A familial nephrotic syndrome characterized by pre..[+] A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13. [-]
myxofibrosarcoma	fibromyxoid sarcoma	A sarcoma that arises from the soft tissue and is ..[+] A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma. [-]
primary ovarian insufficiency 1	FMR1-related primary ovarian insufficiency; Fragil.. [+] FMR1-related primary ovarian insufficiency; Fragile X-associated primary ovarian insufficiency; premature ovarian failure 1 [-]	A primary ovarian insufficiency that has_material_..[+] A primary ovarian insufficiency that has_material_basis_in premutations in the FMR1 gene on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28). [-]
primary localized cutaneous amyloidosis 1	familial primary localized cutaneous amyloidosis-1.. [+] familial primary localized cutaneous amyloidosis-1 [-]	A primary cutaneous amyloidosis that has_material_..[+] A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR) on chromosome 5p13. [-]
primary hypoalphalipoproteinemia 1	familial hypoalphalipoproteinemia; familial HDL de.. [+] familial hypoalphalipoproteinemia; familial HDL deficiency [-]	A hypolipoproteinemia that is characterized by low..[+] A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease. [-]
X-linked intellectual developmental disorder 109	Fragile XE syndrome; fragile site on chromosome Xq.. [+] Fragile XE syndrome; fragile site on chromosome Xq28 [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2), either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion. [-]
DeSanto-Shinawi syndrome	Facial dysmorphism-developmental delay-behavioral .. [+] Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion; Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Chromosome 10p12-p11 deletion syndrome; WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome [-]	A syndrome that is characterized by global develop..[+] A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11. [-]
pulmonary venoocclusive disease 2	FAMILIAL PULMONARY CAPILLARY HEMANGIOMATOSIS	A pulmonary venoocclusive disease that has_materia..[+] A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. [-]
Paget's disease of bone 5	Familial osteoectasia; Hereditary hyperphosphatasi.. [+] Familial osteoectasia; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis; Juvenile Paget disease; Paget disease of bone-5 [-]	A Paget's disease of bone that is characterized by..[+] A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24. [-]
TNF receptorâassociated periodic syndrome	familial Hibernian fever; FHF; FPF; familial hiber.. [+] FPF; FHF; familial Hibernian fever; familial hibernian fever; tumor necrosis factor receptor 1 associated periodic syndrome; TNF receptor 1-associated periodic syndrome; hibernian fever; TNF receptor associated periodic syndrome; TRAPS; autosomal dominant familial periodic fever; tumor necrosis factor receptor associated periodic syndrome [-]	An autoinflammatory disease characterized by recur..[+] An autoinflammatory disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13. [-]
hypogonadotropic hypogonadism 12 with or without anosmia	familial hypogonadotrophic eunuchoidism; familial .. [+] familial hypogonadotrophic eunuchoidism; familial idiopathic gonadotrpin deficiency [-]	A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21. [-]

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