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Disease	Synonyms	Description	Articles
Bjornstad syndrome	PTD; BJS; deafness-pili torti-hypogonadism syndrom.. [+] PTD; BJS; deafness-pili torti-hypogonadism syndrome [-]	A syndrome that is characterized by early onset of..[+] A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. [-]
myotonic dystrophy type 2	proximal myotonic myopathy	A myotonic disease that is characterized by myoton..[+] A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one. [-]	3 articles
temtamy preaxial brachydactyly syndrome	PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	A syndrome that is characterized by brachydactyly,..[+] A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene. [-]
atypical autism	PDD	An autism spectrum disorder that involves some aut..[+] An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an absence of all the traits necessary for a diagnosis of autism. [-]
autosomal recessive pyridoxine-refractory sideroblastic anemia 2	pyridoxine-refractory autosomal recessive siderobl.. [+] pyridoxine-refractory autosomal recessive sideroblastic anemia; pyridoxine-refractory autosomal recessive sideroblastic anaemia; autosomal recessive pyridoxine-refractory sideroblastic anaemia 2 [-]	A sideroblastic anemia that is characterized by mi..[+] A sideroblastic anemia that is characterized by microcytic hypochromic anemia and iron overload, and has_material_basis_in autosomal recessive inheritance of mutation in the SLC25A38 gene. [-]
Clostridium difficile colitis	Pseudomembranous colitis	A colitis characterized by an overgrowth of Clostr..[+] A colitis characterized by an overgrowth of Clostridium difficile bacteria. [-]
orofaciodigital syndrome I	Papillon-Leage-Psaume syndrome; orofaciodigital sy.. [+] Papillon-Leage-Psaume syndrome; orofaciodigital syndrome 1; orofaciodigital syndrome type I [-]	An orofaciodigital syndrome that is characterized ..[+] An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease. [-]
acrodermatitis chronica atrophicans	primary diffuse atrophy; Herxheimer disease	An acrodermatitis characterized by a chronically p..[+] An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis. [-]
autosomal recessive early-onset Parkinson disease 15	pallidopyramidal syndrome; Parkinsonian-pyramidal .. [+] pallidopyramidal syndrome; Parkinsonian-pyramidal syndrome [-]	A Parkinson's disease that has_material_basis_in m..[+] A Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3. [-]
orofaciodigital syndrome V	polydactyly, postaxial, with median cleft of upper.. [+] polydactyly, postaxial, with median cleft of upper lip; orofaciodigital syndrome Thurston type; OFD5 [-]	An orofaciodigital syndrome that is characterized ..[+] An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32. [-]
Joubert syndrome with orofaciodigital defect	Polydactyly cleft lip palate psychomotor retardati.. [+] Polydactyly cleft lip palate psychomotor retardation; OFD6; Varadi-Papp syndrome; Varadi syndrome; orofaciodigital syndrome VI [-]	A Joubert syndrome that is characterized by orofac..[+] A Joubert syndrome that is characterized by orofaciodigital defect. [-]
chromosome 16p11.2 duplication syndrome	proximal trisomy 16p11.2; proximal dup(16)(p11.2); .. [+] proximal dup(16)(p11.2); proximal trisomy 16p11.2; proximal 16p11.2 microduplication syndrome [-]	A chromosomal duplication syndrome that has_materi..[+] A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language. [-]
gelatinous drop-like corneal dystrophy	primary familial amyloidosis of the cornea; GDCD; .. [+] primary familial amyloidosis of the cornea; GDCD; subepithelial amyloidosis of the cornea; corneal amyloidosis [-]	An epithelial and subepithelial dystrophy that is ..[+] An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32. [-]
Kindler syndrome	poikiloderma of Kindler; hereditary acrokeratotic .. [+] poikiloderma of Kindler; hereditary acrokeratotic poikiloderma of Kindler-Weary [-]	A skin disease characterized by congenital blister..[+] A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling. [-]
Shwachman-Diamond syndrome	pancreatic insufficiency and bone marrow dysfuncti.. [+] pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome; Shwachman-Diamond type metaphyseal dysplasia [-]	A syndrome characterized by exocrine pancreatic in..[+] A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. [-]	1 articles
apricot allergy	Prunus armeniaca fruit allergy	A fruit allergy triggered by Prunus armeniaca plan..[+] A fruit allergy triggered by Prunus armeniaca plant fruit food product. [-]
cherry allergy	Prunus avium fruit allergy	A fruit allergy triggered by Prunus avium plant fr..[+] A fruit allergy triggered by Prunus avium plant fruit food product. [-]
tiger prawn allergy	Penaeus monodon allergy	A crustacean allergy triggered by Penaeus monodon.
ablepharon macrostomia syndrome	poikiloderma with neutropenia, Clericuzio type	A syndrome characterized by ablepharon, macrostomi..[+] A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. [-]
alpha-2-plasmin inhibitor deficiency	plasmin inhibitor deficiency; antiplasmin defiency.. [+] plasmin inhibitor deficiency; antiplasmin defiency [-]	A hemorrhagic disease that has_material_basis_in m..[+] A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. [-]
ulnar-mammary syndrome	Pallister ulnar-mammary syndrome; Schinzel syndrom.. [+] Pallister ulnar-mammary syndrome; Schinzel syndrome [-]	A syndrome that is characterized by posterior limb..[+] A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene. [-]	1 articles
familial erythrocytosis 1	primary familial and congenital polycythemia; auto.. [+] primary familial and congenital polycythemia; autosomal dominant benign erythrocytosis; ECYT1 [-]	A primary polycythemia that has_material_basis_in ..[+] A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. [-]
atrichia with papular lesions	papular atrichia; APL	An alopecia characterized by irreversible hair los..[+] An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3. [-]
familial temporal lobe epilepsy 1	partial epilepsy with auditory features; ETL1	A temporal lobe epilepsy characterized by autosoma..[+] A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24. [-]
hypomyelinating leukodystrophy 2	PMLD1; Pelizaeus-Merzbacher-like disease due to GJ.. [+] PMLD1; Pelizaeus-Merzbacher-like disease due to GJC2 mutation; Pelizaeus-Merzbacher-like disease 1; HLD2 [-]	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42. [-]
hypomyelinating leukodystrophy 4	Pelizaeus-Merzbacher-like disease due to HSPD1 mut.. [+] Pelizaeus-Merzbacher-like disease due to HSPD1 mutation; HLD4; mitochondrial HSP60 chaperonopathy; MitCHAP60 disease [-]	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33. [-]
hypomyelinating leukodystrophy 3	Pelizaeus-Merzbacher-like disease due to AIMP1 mut.. [+] Pelizaeus-Merzbacher-like disease due to AIMP1 mutation; HLD3 [-]	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24. [-]
syndromic X-linked intellectual disability 5	Pettigrew syndrome; MRX59; MRXS21; syndromic X-lin.. [+] Pettigrew syndrome; MRX59; MRXS21; syndromic X-linked mental retardation 21; syndromic X-linked mental retardation Fried type; X-linked mental retardation 59; Mental retardation, X-linked syndromic 5; X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures; Fried syndrome; X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome [-]	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. [-]
X-linked intellectual disability-psychosis-macroorchidism syndrome	PPM-X; mental retardation with psychosis, pyramida.. [+] PPM-X; mental retardation with psychosis, pyramidal signs, and macroorchidism; mental retardation, X-linked, syndromic 13; MRXS13; X-linked mental retardation with spasticity; Lindsay-Burn syndrome; X-linked mental retardation 79 [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28. [-]
Griscelli syndrome	partial albinism-immunodeficiency syndrome; ChÃ©di.. [+] partial albinism-immunodeficiency syndrome; ChÃ©diak-Higashi-like syndrome; Griscelli-PruniÃ©ras syndrome; Chediak-Higashi-like syndrome; Griscelli-Prunieras syndrome [-]	An integumentary system disease characterized by s..[+] An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin. [-]
Griscelli syndrome type 2	partial albinism and immunodeficiency syndrome; PA.. [+] partial albinism and immunodeficiency syndrome; PAID syndrome; Griscelli syndrome with hemophagocytic syndrome; Griscelli-PruniÃ©ras syndrome type 2; GS2; Griscelli-Prunieras syndrome type 2; hypopigmentation-immunodeficiency with or without neurologic impairment syndrome [-]	A Griscelli syndrome characterized by silvery gray..[+] A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3. [-]
isolated microphthalmia 6	posterior nonsyndromic microphthalmia; MCOP6	An isolated microphthalmia characterized by autoso..[+] An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37. [-]
isolated microphthalmia 5	posterior microphthalmia with retinitis pigmentosa.. [+] posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen; MCOP5; microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome [-]	An isolated microphthalmia characterized by autoso..[+] An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. [-]
hereditary neuropathy with liability to pressure palsies	potato-grubbing palsy; current pressure-sensitive .. [+] potato-grubbing palsy; current pressure-sensitive neuropathy; familial recurrent polyneuropathy; HNPP; tomaculous neuropathy; heterozygous microdeletion 17p11.2p12; tulip-bulb digger's palsy [-]	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. [-]
autosomal recessive pseudohypoaldosteronism type 1	PHA1B; autosomal recessive PHA 1	A pseudohypoaldosteronism characterized by enal sa..[+] A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G. [-]	1 articles
autosomal dominant pseudohypoaldosteronism type 1	PHA1A; autosomal dominant PHA 1	A pseudohypoaldosteronism characterized by Salt wa..[+] A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31. [-]	1 articles
isolated growth hormone deficiency type IA	primordial dwarfism; pituitary dwarfism I; autosom.. [+] pituitary dwarfism I; primordial dwarfism; autosomal recessive isolated growth hormone deficiency; IGHD IA; Illig-type growth hormone deficiency; sexual ateleiotic dwarfism [-]	An isolated growth hormone deficiency characterize..[+] An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3. [-]
renal hypomagnesemia 3	primary hypomagnesemia due to defect in renal tubu.. [+] primary hypomagnesemia due to defect in renal tubular transport of magnesium; familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement; FHHNC without severe ocular involvement; isolated renal hypomagnesemia; 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. [-]
intestinal hypomagnesemia 1	primary hypomagnesemia with secondary hypocalcemia.. [+] primary hypomagnesemia with secondary hypocalcemia; HOMG1; hypomagnesemia caused by selective magnesium malabsorption; hypomagnesemia intestinal type 1; hypomagnesemic tetany; intestinal hypomagnesemia with secondary hypocalcemia [-]	A hypomagnesemia characterized by very low serum m..[+] A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorption and kidney excretion and secondary hypocalcemia that has_material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21. [-]
ITM2B-related cerebral amyloid angiopathy 1	Presenile Dementia with Spastic Ataxia; Cerebral A.. [+] Presenile Dementia with Spastic Ataxia; Cerebral Amyloid Angiopathy, British Type; Familial British Dementia; FBD [-]	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 an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2. [-]
autosomal dominant intellectual developmental disorder 38	psychomotor retardation, epilepsy, and language di.. [+] psychomotor retardation, epilepsy, and language disability syndrome; PRELDS; autosomal dominant mental retardation 38; MRD38; autosomal dominant non-syndromic intellectual disability 38 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33. [-]
familial partial lipodystrophy type 3	PPARG-related FPLD; PPARG-related familial partial.. [+] PPARG-related FPLD; PPARG-related familial partial lipodystrophy; familial partial lipodystrophy associated with PPARG mutations; FPLD3 [-]	A familial partial lipodystrophy characterized by ..[+] A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25. [-]
familial partial lipodystrophy type 4	PLIN1-related FPLD; PLIN1-related familial partial.. [+] PLIN1-related FPLD; PLIN1-related familial partial lipodystrophy; familial partial lipodystrophy associated with PLIN1 mutations; FPLD4 [-]	A familial partial lipodystrophy characterized by ..[+] A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26. [-]
hereditary lymphedema I	PCL; congenital primary lymphedema; LMPH1; Nonne-M.. [+] PCL; congenital primary lymphedema; LMPH1; Nonne-Milroy lymphedema; Milroy disease; hereditary lymphedema type I [-]	A hereditary lymphedema characterized by autosomal..[+] A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood. [-]
intrahepatic cholestasis of pregnancy	pregnancy related cholestasis; gravidic intrahepat.. [+] pregnancy related cholestasis; gravidic intrahepatic cholestasis; ICP; recurrent intrahepatic cholestasis of pregnancy [-]	An intrahepatic cholestasis characterized by rever..[+] An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery. [-]
multiple epiphyseal dysplasia 4	Polyepiphyseal dysplasia type 4; MED4; multiple ep.. [+] Polyepiphyseal dysplasia type 4; MED4; multiple epiphyseal dysplasia with clubfoot; rMED; EDM4; multiple epiphyseal dysplasia with bilateral patellae [-]	A multiple epiphyseal dysplasia that has_material_..[+] A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32. [-]
multiple epiphyseal dysplasia 1	polyepiphyseal dysplasia type 1; EDM1; MED1; multi.. [+] polyepiphyseal dysplasia type 1; EDM1; MED1; multiple epiphyseal dysplasia COMP-related [-]	A multiple epiphyseal dysplasia that has_material_..[+] A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13. [-]
childhood hepatocellular carcinoma	pediatric hepatocellular carcinoma	A hepatocellular carcinoma that occurs in children..[+] A hepatocellular carcinoma that occurs in children and is characterized by a distinct etiological predisposition, biological behavior, and lower frequency of cirrhosis as compared to adult hepatocellular carcinoma. [-]
childhood acute myeloid leukemia	pediatric acute myeloid leukemia; paediatric acute.. [+] pediatric acute myeloid leukemia; paediatric acute myeloid leukaemia; childhood acute myeloid leukaemia [-]	A childhood leukemia that is characterized by the ..[+] A childhood leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. [-]
bradyopsia 1	prolonged electroretinal response suppression 1	A braydopsia that has_material_basis_in homozygous..[+] A braydopsia that has_material_basis_in homozygous or compound heterozygous mutation in the RGS9 gene on chromosome 17q24. [-]

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