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Disease	Synonyms	Description	Articles
Antley-Bixler syndrome	Antley Bixler syndrome; Antley and Bixler's syndro.. [+] Antley Bixler syndrome; Antley and Bixler's syndrome [-]	A craniosynostosis that is characterized by radioh..[+] A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period. [-]
Antley-Bixler syndrome without disordered steroidogenesis		An Antley-Bixler syndrome that has_material_basis_..[+] An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome. [-]
amyotrophic lateral sclerosis type 24		An amyotrophic lateral sclerosis that is character..[+] An amyotrophic lateral sclerosis that is characterized by adult-onset loss of motor neurons and that has_material_basis_in heterozygous mutation in the NEK1 gene on chromosome 4q33. [-]
amyotrophic lateral sclerosis type 25		An amyotrophic lateral sclerosis that is character..[+] An amyotrophic lateral sclerosis that is characterized by rapidly progressive muscle weakness and death due to respiratory failure and that has_material_basis_in heterozygous mutation in the KIF5A gene on chromosome 12q13. ALS25 may have a lower median age at onset (46.5 years) and longer median survival (10 years) than that found in epidemiologic studies (62.5 years and 20 to 30 months, respectively). [-]
amyotrophic lateral sclerosis type 26		An amyotrophic lateral sclerosis that is character..[+] An amyotrophic lateral sclerosis that is characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness and that has_material_basis_in heterozygous mutation in the TIA1 gene on chromosome 2p13. [-]
amyotrophic lateral sclerosis type 28		An amyotrophic lateral sclerosis that is character..[+] An amyotrophic lateral sclerosis that is characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness and that has_material_basis_in a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22. [-]
ataxia-oculomotor apraxia type 4		An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. [-]
ataxia-telangiectasia-like disorder-1		An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) on chromosome 11q21. [-]
ataxia-telangiectasia-like disorder-2	PCNA-related progressive neurodegenerative photose.. [+] PCNA-related progressive neurodegenerative photosensitivity syndrome [-]	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12. [-]
autosomal dominant distal hereditary motor neuronopathy 10		An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized clinically by length-dependent motor neuropathy primarily affecting the lower limbs and that has_material_basis_in heterozygous mutation in the EMILIN1 gene on chromosome 2p23. [-]
autosomal dominant distal hereditary motor neuronopathy 11		An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties and that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. [-]
autosomal dominant distal hereditary motor neuronopathy 13		An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12. [-]
anaplastic sarcoma of the kidney		A kidney sarcoma that is characterized by a prolif..[+] A kidney sarcoma that is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures. [-]
autosomal recessive distal hereditary motor neuronopathy 6		An autosomal recessive distal hereditary motor neu..[+] An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness in early infancy and that has_material_basis_in homozygous mutation in the REEP1 gene on chromosome 2p11. [-]
autosomal recessive distal hereditary motor neuronopathy 7		An autosomal recessive distal hereditary motor neu..[+] An autosomal recessive distal hereditary motor neuronopathy characterized by onset of lower leg weakness in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the VWA1 gene on chromosome 1p36. [-]
autosomal recessive distal hereditary motor neuronopathy 8	sorbitol dehydrogenase deficiency with peripheral .. [+] sorbitol dehydrogenase deficiency with peripheral neuropathy; SORDD [-]	An autosomal recessive distal hereditary motor neu..[+] An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21. [-]
autosomal recessive distal hereditary motor neuronopathy 9		An autosomal recessive distal hereditary motor neu..[+] An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and atrophy, resulting in gait difficulties and that has_material_basis_in homozygous or compound heterozygous mutation in the COQ7 gene on chromosome 16p12. [-]
autosomal recessive distal hereditary motor neuronopathy 10		An autosomal recessive distal hereditary motor neu..[+] An autosomal recessive distal hereditary motor neuronopathy characterized by distal muscle weakness and atrophy predominantly affecting the lower limbs and resulting in gait abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene on chromosome 14q32. [-]
agenesis of the corpus callosum with peripheral neuropathy	Andermann syndrome; corpus callosum agenesis-neuro.. [+] Andermann syndrome; corpus callosum agenesis-neuronopathy syndrome; Charlevoix disease [-]	A neurodegenerative disease characterized by autos..[+] A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. [-]	2 articles
autosomal dominant familial periodic fever	familial hibernian fever; tumor necrosis factor re.. [+] familial hibernian fever; tumor necrosis factor receptor 1 associated periodic syndrome; familial Hibernian fever; TNF receptor 1-associated periodic syndrome; FHF; FPF; hibernian fever; TNF receptor associated periodic syndrome; TRAPS; tumor necrosis factor receptor associated periodic syndrome [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency 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. [-]
autosomal dominant macrothrombocytopenia TUBB1-related		A thrombocytopenia that is characterized by macrot..[+] A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3. [-]
autosomal recessive hypercholesterolemia	ARH1; autosomal recessive hypercholesterolemia 2; .. [+] autosomal recessive hypercholesterolemia 2; ARH1; autosomal recessive hypercholesterolemia 1; ARH2; ARH; familial autosomal recessive hypercholesterolemia; FHCB2; familial autosomal recessive hypercholesterolemia; FHCB1 [-]	A familial hypercholesterolemia that is characteri..[+] A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36. [-]
autosomal dominant hypocalcemia 1	HYPOC1	An autosomal dominant hypocalcemia disease that ha..[+] An autosomal dominant hypocalcemia disease that has material_basis_in heterozygous mutation in the CASR gene on chromosome 3q21. [-]
autosomal dominant hypocalcemia 2	HYPOC2	An autosomal dominant hypocalcemia disease that ha..[+] An autosomal dominant hypocalcemia disease that has material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13. [-]
autosomal dominant hypocalcemia	HYPOC	A metal metabolism disorder characterized by autos..[+] A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone. [-]	1 articles
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	ankyloblepharon-ectodermal defects-cleft lip and p.. [+] ankyloblepharon-ectodermal defects-cleft lip and palate syndrome; AEC syndrome; Hay-Wells syndrome [-]	An ectodermal dysplasia that is characterized by a..[+] An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27. [-]
aromatase excess syndrome	AEXS; familial hyperestrogenism; increased aromata.. [+] AEXS; familial hyperestrogenism; increased aromatase activity; hereditary prepubertal gynecomastia [-]	A reproductive system disease characterized by inc..[+] A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene. [-]
aromatic L-amino acid decarboxylase deficiency	AADC deficiency	An inherited metabolic disorder that is characteri..[+] An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12. [-]
achromatopsia 2	ACHM2; rod monochromacy 2; rod monochromatism 2; R.. [+] ACHM2; rod monochromacy 2; rod monochromatism 2; RMCH2 [-]	An achromatopsia that has_material_basis_in homozy..[+] An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11. [-]	1 articles
achromatopsia 3	ACHM1; ACHM3; Pingelapese blindness; RMCH1; rod mo.. [+] ACHM3; ACHM1; Pingelapese blindness; RMCH1; rod monochromacy 1; rod monochromatism 1 [-]	An achromatopsia that has_material_basis_in homozy..[+] An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2. [-]	1 articles
achromatopsia 7	ACHM7	An achromatopsia that has_material_basis_in homozy..[+] An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23. [-]
achromatopsia 4	ACHM4	An achromatopsia that has_material_basis_in homozy..[+] An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the GNAT2 gene on chromosome 1p13. [-]
advanced sleep phase syndrome 1	familial advanced sleep phase syndrome 1; FASPS1	An advanced sleep phase syndrome that has material..[+] An advanced sleep phase syndrome that has material basis in heterozygous mutation in the PER2 gene on chromosome 2q37. [-]
advanced sleep phase syndrome 2	familial advanced sleep phase syndrome 2; FASPS2	An advanced sleep phase syndrome that has material..[+] An advanced sleep phase syndrome that has material basis in heterozygous mutation in the CSNK1D gene on chromosome 17q25. [-]
advanced sleep phase syndrome 3	familial advanced sleep phase syndrome 3; FASPS3	An advanced sleep phase syndrome that has material..[+] An advanced sleep phase syndrome that has material basis in heterozygous mutation in the PER3 gene on chromosome 1p36.23. [-]
age related macular degeneration 1	ARMD1; age related maculopathy 1	An age related macular degeneration associated wit..[+] An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1. [-]
age related macular degeneration 2	ARMD2	An age related macular degeneration conferred by v..[+] An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22. [-]
age related macular degeneration 4	ARMD4	An age related macular degeneration conferred by v..[+] An age related macular degeneration conferred by variation in the CFH gene on chromosome 1q31. [-]
age related macular degeneration 6	ARMD6	An age related macular degeneration conferred by h..[+] An age related macular degeneration conferred by heterozygous mutation in the RAXL1 gene on chromosome 19p13. [-]
age related macular degeneration 7	ARMD7	An age related macular degeneration conferred by v..[+] An age related macular degeneration conferred by variation in the HTRA1 gene on chromosome 10q26. [-]
age related macular degeneration 8	ARMD8	An age related macular degeneration that has mater..[+] An age related macular degeneration that has material basis in mutation in the ARMS2 gene, originally designated LOC387715, on chromosome 10q26 [-]
age related macular degeneration 9	ARMD9	An age related macular degeneration conferred by v..[+] An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13. [-]
age related macular degeneration 10	ARMD10	An age related macular degeneration associated wit..[+] An age related macular degeneration associated with variation in the genomic region 9:112,100,000-127,500,000 (GRCh38). TLR4 has been put forth as a candidate gene. [-]
age related macular degeneration 11	ARMD11	An age related macular degeneration conferred by v..[+] An age related macular degeneration conferred by variation in the CST3 gene on chromosome 20p11. [-]
age related macular degeneration 12	ARMD12	An age related macular degeneration conferred by m..[+] An age related macular degeneration conferred by mutation in the CX3CR1 gene on chromosome 3p22. [-]
age related macular degeneration 13	ARMD13	An age related macular degeneration conferred by h..[+] An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25. [-]
age related macular degeneration 14	ARMD14	An age related macular degeneration associated wit..[+] An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21. [-]
age related macular degeneration 15	ARMD15	An age related macular degeneration conferred by v..[+] An age related macular degeneration conferred by variation in the C9 gene on chromosome 5p13. [-]
age related macular degeneration 5	ARMD5	An age related macular degeneration onferred by he..[+] An age related macular degeneration onferred by heterozygous mutation in the ERCC6 gene on chromosome 10q11. [-]
alpha thalassemia-intellectual disability syndrome type 1	ATR-16 syndrome; alpha-thalassemia/mental retardat.. [+] ATR-16 syndrome; alpha-thalassemia/mental retardation syndrome, deletion-type; alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome, deletion type; ATR syndrome linked to chromosome 16; alpha-thalassemia/mental retardation syndrome, type 1; alpha thalassemia-retardation syndrome; alpha thalassemia-intellectual disability syndrome, deletion type [-]	An alpha thalassemia that has_material_basis_in a ..[+] An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others. [-]

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