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Disease	Synonyms	Description
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. [-]
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	Parkinsonian-pyramidal syndrome; pallidopyramidal .. [+] Parkinsonian-pyramidal syndrome; pallidopyramidal 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; OFD5; orofaciodigital syndrome Thurston type [-]	n_a
chromosome 16p11.2 duplication syndrome	proximal dup(16)(p11.2); proximal trisomy 16p11.2; .. [+] proximal trisomy 16p11.2; proximal dup(16)(p11.2); proximal 16p11.2 microduplication syndrome [-]	n_a
gelatinous drop-like corneal dystrophy	primary familial amyloidosis of the cornea; cornea.. [+] primary familial amyloidosis of the cornea; corneal amyloidosis; GDCD; subepithelial amyloidosis of the cornea [-]	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 syndrome; Shwachman-Bodian-Diamond syndrome [-]	A syndrome characterized by exocrine pancreatic in..[+] A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. [-]
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. [-]
hereditary motor and sensory neuropathy with agenesis of the corpus callosum	peripheral neuropathy associated with agenesis of .. [+] peripheral neuropathy associated with agenesis of the corpus callosum; agenesis of the corpus callosum with peripheral neuropathy; Andermann syndrome; Charlevoix disease; corpus callosum agenesis-neuronopathy syndrome [-]	A neuropathy that has_material_basis_in homozygous..[+] A neuropathy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. It is an autosomal recessive disease of early onset characterized by a delay in developmental milestones, a severe sensory-motor polyneuropathy with areflexia, a variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment. [-]
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 has_material_basis_in heterozygous..[+] A syndrome that has_material_basis_in heterozygous mutation in the TBX3 gene. It is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies. [-]
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; MitCHAP60 disease; mitochondrial HSP60 chaperonopathy [-]	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; Fried syndrome; Mental retarda.. [+] Pettigrew syndrome; Fried syndrome; Mental retardation, X-linked syndromic 5; MRX59; MRXS21; 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. [-]
X-linked intellectual disability-psychosis-macroorchidism syndrome	PPM-X; Lindsay-Burn syndrome; mental retardation w.. [+] PPM-X; Lindsay-Burn syndrome; mental retardation with psychosis, pyramidal signs, and macroorchidism; mental retardation, X-linked, syndromic 13; MRXS13; X-linked mental retardation 79; X-linked mental retardation with spasticity [-]	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 [-]	An autosomal recessive disease characterized by si..[+] An autosomal recessive 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; 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	A microphthalmia characterized by autosomal recess..[+] A 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 [-]	A microphthalmia characterized by autosomal recess..[+] A 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; heterozygous microdeletion 17p11.2p12; HNPP; tomaculous neuropathy; 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. [-]
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. [-]
isolated growth hormone deficiency type IA	pituitary dwarfism I; primordial dwarfism; autosom.. [+] primordial dwarfism; pituitary dwarfism I; 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; HOMG3; isolated renal hypomagnesemia; 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 absorbtion 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 non-syndromic intellectual disability 38	psychomotor retardation, epilepsy, and language di.. [+] psychomotor retardation, epilepsy, and language disability syndrome; PRELDS; autosomal dominant mental retardation 38; MRD38 [-]	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of EEF1A2 on chromosome 20q13.33. [-]
intrahepatic cholestasis of pregnancy 1	pregnancy related cholestasis 1; ICP1	An intrahepatic cholestasis of pregnancy character..[+] An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. [-]
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. [-]
bradyopsia 2	prolonged electroretinal response suppression 2	A braydopsia that has_material_basis_in homozygous..[+] A braydopsia that has_material_basis_in homozygous mutation in the RGS9BP gene on chromosome 19q13. [-]
metaphyseal dysplasia	Pyle's disease; Pyle-Cohn syndrome; Bakwin-Krida s.. [+] Pyle-Cohn syndrome; Pyle's disease; Bakwin-Krida syndrome [-]	An osteochondrodysplasia that results_in thinning ..[+] An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone. [-]
Albright's hereditary osteodystrophy	pseudohypoparathyroidism type 1a; Albright heredit.. [+] pseudohypoparathyroidism type 1a; Albright hereditary osteodystrophy [-]	An osteochondrodysplasia that has_material_basis_i..[+] An osteochondrodysplasia that has_material_basis_in lack of responsiveness to parathyroid hormone which results_in shortening and widening of long bones of the located_in hand or located_in foot along with short stature, obesity, and rounded face. [-]
thiopurine S-methyltransferase deficiency	poor metabolism of thiopurines-1; TPMT deficiency; .. [+] poor metabolism of thiopurines-1; TPMT deficiency [-]	An inherited metabolic disease that is characteriz..[+] An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines. [-]
congenital disorder of glycosylation Ia	PMM2-congenital disorder of glycosylation; congeni.. [+] PMM2-congenital disorder of glycosylation; congenital disorder of glycosylation 1a [-]	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13. [-]
Heimler syndrome 1	peroxisomal biogenesis disorder 1C; Deafness-ename.. [+] peroxisomal biogenesis disorder 1C; Deafness-enamel hypoplasia-nail defects syndrome [-]	A peroxisomal biogenesis disorder that is characte..[+] A peroxisomal biogenesis disorder that is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21. [-]
B-lymphoblastic leukemia/lymphoma	precursor B lymphoblastic lymphoma/leukemia; B lym.. [+] precursor B lymphoblastic lymphoma/leukemia; B lymphoblastic leukemia/lymphoma; B-ALL [-]	A B-cell acute lymphoblastic leukemia that is char..[+] A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow. [-]
congenital myopathy 6	proximal myopathy and ophthalmoplegia; inclusion b.. [+] proximal myopathy and ophthalmoplegia; inclusion body myopathy 3 [-]	A congenital myopathy that is characterized by chi..[+] A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13. [-]
childhood acute megakaryoblastic leukemia	pediatric non-Down syndrome acute megakaryoblastic.. [+] pediatric non-Down syndrome acute megakaryoblastic leukemia [-]	An acute megakaryocytic leukemia that is character..[+] An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood. [-]
long COVID	post-COVID syndrome; post-acute sequelae of SARS-C.. [+] post-COVID syndrome; post-acute sequelae of SARS-CoV-2 infection; PASC; chronic COVID-19 [-]	A Coronavirus infectious disease that is character..[+] A Coronavirus infectious disease that is characterized by long-term persistent and fluctuating symptoms, in individuals with COVID-19, persisting beyond three to four weeks, including the loss of the ability to smell and taste, breathlessness, fatigue, difficulty in breathing, difficulty concentrating, memory loss, confusion, headache, heart palpitations, chest pain, pain with deep breaths, dizziness, and tachycardia. [-]
immunoglobulin light chain amyloidosis	Primary systemic amyloidosis; Primary systemic AL .. [+] Primary systemic amyloidosis; Primary systemic AL amyloidosis; Primary AL amyloidosis; AL amyloidosis; Amyloidosis primary systemic; Light chain amyloidosis; Systemic AL amyloidsis [-]	An amyloidosis that is characterized by misfolded ..[+] An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells. [-]

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