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Disease	Synonyms	Description
autosomal dominant nonsyndromic deafness 34		An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. [-]
acquired generalized lipodystrophy	Lawrence syndrome	A complete generalized lipodystrophy that is chara..[+] A complete generalized lipodystrophy that is characterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth. [-]
atypical hemolytic-uremic syndrome		A complement deficiency that is characterized by m..[+] A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction. [-]
aortic valve disease 2		A bicuspid aortic valve disease that has_material_..[+] A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22. [-]
Alzheimer's disease 1	Alzheimer's disease 1, early onset	An Alzheimer's disease that has_material_basis_in ..[+] An Alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21. [-]
ankylosing spondylitis 1		A ankylosing spondylitis that has_material_basis_i..[+] A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 6p21.3. [-]
ankylosing spondylitis 2		A ankylosing spondylitis that has_material_basis_i..[+] A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 9q31-q34. [-]
ankylosing spondylitis 3		A ankylosing spondylitis that has_material_basis_i..[+] A ankylosing spondylitis that has_material_basis_in variation in the HLA-B allele on chromosome 2q36.1-q36.3. [-]
anterior segment dysgenesis 1		An anterior segment dysgenesis that has_material_b..[+] An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24. [-]
anterior segment dysgenesis 2		An anterior segment dysgenesis that has_material_b..[+] An anterior segment dysgenesis that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the FOXE3 gene on chromosome 1p33. [-]
anterior segment dysgenesis 3		An anterior segment dysgenesis that has_material_b..[+] An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. [-]
anterior segment dysgenesis 4		An anterior segment dysgenesis that has_material_b..[+] An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25. [-]
anterior segment dysgenesis 5		An anterior segment dysgenesis that has_material_b..[+] An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. [-]
anterior segment dysgenesis 6		An anterior segment dysgenesis that has_material_b..[+] An anterior segment dysgenesis that has_material_basis_in compound heterozygous mutation in the CYP1B1 gene on chromosome 2p22. [-]
anterior segment dysgenesis 7		An anterior segment dysgenesis that has_material_b..[+] An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25. [-]
anterior segment dysgenesis 8		An anterior segment dysgenesis that has_material_b..[+] An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the CPAMD8 gene on chromosome 19p13. [-]
auditory system benign neoplasm		A sensory system benign neoplasm that is located i..[+] A sensory system benign neoplasm that is located in the auditory system. [-]
alopecia-mental retardation syndrome		A syndrome that is characterized by loss of hair o..[+] A syndrome that is characterized by loss of hair on the scalp, eyebrows, eyelashes, axillas and pubic hair, in addition to mild to severe intellectual disability. [-]
alopecia-mental retardation syndrome 1		An alopecia-mental retardation syndrome that has_m..[+] An alopecia-mental retardation syndrome that has_material_basis_in homozygous mutation in the AHSG gene on chromosome 3q27. [-]
alopecia-mental retardation syndrome 2		An alopecia-mental retardation syndrome that has_m..[+] An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 3q26.2-q26.31. [-]
atrial standstill 1		A heart conduction disease that is characterized b..[+] A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and that has_material_basis_in coinheritance of a variant in the SCN5A gene in combination with a rare connexin-40 genotype. [-]
atrial standstill 2		A heart conduction disease that is characterized b..[+] A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and has_material_basis_in homozygous mutation in the NPPA gene on chromosome 1p36. [-]
autosomal dominant familial visceral neuropathy		An intestinal pseudo-obstruction that is inherited..[+] An intestinal pseudo-obstruction that is inherited as an autosomal dominant trait. [-]
aortic dissection		An aortic disease that is characterized by tearing..[+] An aortic disease that is characterized by tearing of the intimal layer of the aorta resulting in separation of the layers of the aortic wall. [-]
autosomal dominant congenital deafness with onychodystrophy		A syndrome that is characterized by autosomal domi..[+] A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21. [-]
autoimmune cholangitis	autoimmune cholangiopathy	An autoimmune hepatitis that is characterized by p..[+] An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera. [-]
antisynthetase syndrome		An autoimmune disease that is characterized by myo..[+] An autoimmune disease that is characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease, and serum autoantibodies to aminoacyl transfer RNA synthetases. [-]
atrophoderma vermiculata		A keratosis pilaris atrophicans that typically pre..[+] A keratosis pilaris atrophicans that typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead. [-]
autosomal recessive limb-girdle muscular dystrophy type 2Z	limb-girdle muscular dystrophy 21	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13. [-]
autosomal recessive intellectual developmental disorder-72	autosomal recessive mental retardation 72	A syndromic intellectual disability that has_mater..[+] A syndromic intellectual disability that has_material_basis_in homozygous mutation in the METTL5 gene on chromosome 2q31. [-]
autoimmune myocarditis		An autoimmune disease of cardiovascular system tha..[+] An autoimmune disease of cardiovascular system that is characterized by inflammation of the heart muscle. [-]
autosomal dominant beta thalassemia	inclusion body beta-thalassemia	A beta thalassemia that has_material_basis_in one ..[+] A beta thalassemia that has_material_basis_in one dominantly inheriteed mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia. [-]
acute erythroid leukemia		An acute myeloid leukemia that is characterized by..[+] An acute myeloid leukemia that is characterized by a predominant immature erythroid population. [-]
acute basophilic leukemia		An acute myeloid leukemia that is characterized by..[+] An acute myeloid leukemia that is characterized by primary differentiation to basophils. [-]
autosomal dominant craniometaphyseal dysplasia		A craniometaphyseal dysplasia that has_material_ba..[+] A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15. [-]
aspirin-induced respiratory disease	aspirin-sensitive asthma	An intrinsic asthma that is characterized by sever..[+] An intrinsic asthma that is characterized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs. [-]
acquired laryngomalacia		A laryngeal disease that is characterized by acqui..[+] A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures. [-]
astrocytoma, IDH-mutant, grade 4		An IDH-mutant anaplastic astrocytoma that is chara..[+] An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas. [-]
astroblastoma, MN1-altered	CNS high-grade neuroepithelial tumors with MN1 alt.. [+] CNS high-grade neuroepithelial tumors with MN1 alteration [-]	An astroblastoma that is characterized by astrobla..[+] An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q. [-]
apolipoprotein A-IV associated amyloidosis	AApoAIV amyloidosis; renal AApoAIV amyloidosis	An amyloidosis that is characterized by slowly pro..[+] An amyloidosis that is characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. [-]
acquired angioedema		An angioedema that is characterized by an acquired..[+] An angioedema that is characterized by an acquired deficiency of (C1-INH) caused by either consumption or inactivation. [-]
anauxetic dysplasia		A spondyloepimetaphyseal dysplasia that is charact..[+] A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. [-]
abdominal obesity-metabolic syndrome 4		An abdominal obesity-metabolic syndrome that is ch..[+] An abdominal obesity-metabolic syndrome that is characterized by obesity, hypertension, and early-onset coronary artery disease and that has_material_basis_in heterozygous mutation in the CELA2A gene on chromosome 1p36. [-]
acute flaccid myelitis		A myelitis that is characterized by acute onset of..[+] A myelitis that is characterized by acute onset of flaccid weakness of one or more limbs. [-]
agenesis of corpus callosum, cardiac, ocular, and genital syndrome		A syndrome that is characterized by global develop..[+] A syndrome that is characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12. [-]
alopecia-mental retardation syndrome 3		An alopecia-mental retardation syndrome that has_m..[+] An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 18q11.2–q12.2. [-]
AMED syndrome	AMEDS	A syndrome that is characterized by global develop..[+] A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance. [-]
arthrogryposis multiplex congenita		A nervous system disease that is characterized by ..[+] A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth. [-]
arrhythmogenic right ventricular dysplasia 14		An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that characterized by palpitations, chest pain, and presyncope and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12. [-]
anauxetic dysplasia 2		A spondyloepimetaphyseal dysplasia that is has_mat..[+] A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22. [-]

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