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Disease	Synonyms	Description	Articles
acrocardiofacial syndrome	cleft palate, cardiac defect, genital anomalies, a.. [+] cleft palate, cardiac defect, genital anomalies, and ectrodactyly; cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome [-]	A syndrome characterized by split-hand/split-foot ..[+] A syndrome characterized by split-hand/split-foot malformation, facial anomalies, cleft lip/palate, congenital heart defect, genital anomalies, and intellectual deficit. [-]	1 articles
atypical dopamine transporter deficiency syndrome	atypical DTDS	A dopamine transporter deficiency syndrome charact..[+] A dopamine transporter deficiency syndrome characterized by normal psychomotor development through early childhood and late childhood-to-adult onset of parkinsonism-dystonia. [-]
aniridia 1		An aniridia that has_material_basis_in heterozygou..[+] An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common. [-]
autosomal recessive spinocerebellar ataxia 16	SCAR16	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13. [-]
axial osteomalacia		An osteosclerosis that results_in coarsening locat..[+] An osteosclerosis that results_in coarsening located_in trabecular bone. [-]
autosomal recessive spinocerebellar ataxia 18	SCAR18	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22. [-]
achondrogenesis		An osteochondrodysplasia that has_material_basis_i..[+] An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disproportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period. [-]
acromesomelic dysplasia		An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by mesomelia and acromelia, which results_in short limb dwarfism. [-]
acromesomelic dysplasia, Maroteaux type	acromesomelic dysplasia-1	An acromesomelic dysplasia that has_material_basis..[+] An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments. [-]
acromesomelic dysplasia, Hunter-Thompson type	acromesomelic dysplasia-2C; acromesomelic dwarfism.. [+] acromesomelic dysplasia-2C; acromesomelic dwarfism [-]	An acromesomelic dysplasia that has_material_basis..[+] An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot. [-]
acromesomelic dysplasia, Grebe type	acromesomelic dysplasia-2A; GREBE CHONDRODYSPLASIA.. [+] acromesomelic dysplasia-2A; GREBE CHONDRODYSPLASIA; grebe chondrodysplasia [-]	An acromesomelic dysplasia that has_material_basis..[+] An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones. [-]
Albright's hereditary osteodystrophy	Albright hereditary osteodystrophy; pseudohypopara.. [+] Albright hereditary osteodystrophy; pseudohypoparathyroidism type 1a [-]	An pseudohypoparathyroidism that has_material_basi..[+] An pseudohypoparathyroidism 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. [-]
achondrogenesis type IA	achondrogenesis Houston-Harris type	An achondrogenesis that results_in abnormal ossifi..[+] An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine. [-]
achondrogenesis type IB	achondrogenesis Fraccaro type	An achondrogenesis that has_material_basis_in muta..[+] An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen. [-]
achondrogenesis type II		An achondrogenesis that has_material_basis_in muta..[+] An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis. [-]
autosomal recessive spinocerebellar ataxia 15	SCAR15	An autosomal recessive cerebellar ataxia that has_..[+] An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the RUBCN gene on chromosome 3q29. [-]
autosomal recessive spinocerebellar ataxia 14	SCAR14	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the SPTBN2 gene on chromosome 11q13. [-]
autosomal recessive spinocerebellar ataxia 7	SCAR7	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15. [-]
autosomal recessive spinocerebellar ataxia 12	SCAR12	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23. [-]
autosomal recessive spinocerebellar ataxia 2	SCAR2	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34. [-]
autosomal recessive spinocerebellar ataxia 13	SCAR13	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has_material_basis_in homozygous mutation in the GRM1 gene on chromosome 6q24. [-]
autosomal recessive spinocerebellar ataxia 11	SCAR11	An autosomal recessive cerebellar ataxia that has_..[+] An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the SYT14 gene on chromosome 1q32. [-]
autosomal recessive spinocerebellar ataxia 17	SCAR17	An autosomal recessive cerebellar ataxia that has_..[+] An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CWF19L1 gene on chromosome 10q24. [-]
autosomal recessive spinocerebellar ataxia 19	Lichtenstein-Knorr syndrome; SCAR19	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia and that has_material_basis_in homozygous mutation in the SLC9A1 gene on chromosome 1p36. [-]
autosomal recessive spinocerebellar ataxia 20	SCAR20	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14. [-]
Alpers-Huttenlocher syndrome	Alper's syndrome; Alpers' disease or gray-matter d.. [+] Alper's syndrome; Alpers' disease or gray-matter degeneration; Alpers-Huttenlocher syndrome; Alpers syndrome; Alpers progressive infantile poliodystrophy; Alpers disease; Diffuse Cerebral Sclerosis of Schilder; mitochondrial DNA depletion syndrome 4a; progressive sclerosing poliodystrophy [-]	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26. [-]
adult acute monocytic leukemia		An acute monocytic leukemia occurring in adults.
adrenocorticotropic hormone deficiency		A hypopituitarrium that is characterized by a decr..[+] A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland. [-]
adenoid cystic carcinoma		An adenocarcinoma that is characterized by bands o..[+] An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. [-]
autosomal dominant dystrophic epidermolysis bullosa		An epidermolysis bullosa dystrophica that is chara..[+] An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. [-]
amyotrophic lateral sclerosis type 23		An amyotrophic lateral sclerosis that has_material..[+] An amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. [-]
autosomal dominant intellectual developmental disorder 56	autosomal dominant mental retardation 56; autosoma.. [+] autosomal dominant mental retardation 56; autosomal dominant intellectual developmental disorder-56 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23. [-]
autosomal dominant intellectual developmental disorder 55	autosomal dominant mental retardation 55; autosoma.. [+] autosomal dominant mental retardation 55; autosomal dominant intellectual developmental disorder-55 with seizures [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that is characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22. [-]
autosomal dominant intellectual developmental disorder 53	autosomal dominant mental retardation 53	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2A gene on chromosome 5q32. [-]
autosomal dominant intellectual developmental disorder 54	autosomal dominant mental retardation 54	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2B gene on chromosome 7p13. [-]
autosomal dominant intellectual developmental disorder 52	autosomal dominant mental retardation 52	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the ASH1L gene on chromosome 1q22. [-]
autosomal dominant mental retardation 51		An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the KMT5B gene on chromosome 11q13. [-]
autosomal dominant intellectual developmental disorder 50	autosomal dominant mental retardation 50; autosoma.. [+] autosomal dominant mental retardation 50; autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the NAA15 gene on chromosome 4q31. [-]
autosomal dominant intellectual developmental disorder 48	autosomal dominant mental retardation 48	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22. [-]
autosomal dominant intellectual developmental disorder 45	autosomal dominant mental retardation 45	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CIC gene on chromosome 19q13. [-]
autosomal dominant intellectual developmental disorder 46	autosomal dominant mental retardation 46	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14. [-]
autosomal dominant intellectual developmental disorder 47	autosomal dominant mental retardation 47	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the STAG1 gene on chromosome 3q22. [-]
autosomal recessive intellectual developmental disorder 61	autosomal recessive mental retardation 61; autosom.. [+] autosomal recessive mental retardation 61; autosomal recessive intellectual developmental disorder-61; Alwadei syndrome [-]	An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the RUN and SH3 domain containing 2 gene (RUSC2) on chromosome 9p13. [-]
amelogenesis imperfecta type 3B		An amelogenesis imperfecta type 3 that is characte..[+] An amelogenesis imperfecta type 3 that is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places and that has_material_basis_in heterozygous mutation in the amelotin gene. [-]
autosomal recessive congenital ichthyosis 13		An autosomal recessive congenital ichthyosis that ..[+] An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the SDR9C7 gene on chromosome 12q13. [-]
autosomal recessive spinocerebellar ataxia 25	SCAR25	An autosomal recessive cerebellar ataxia that has_..[+] An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the ATG5 gene on chromosome 6q21. [-]
autosomal recessive spinocerebellar ataxia 26	SCAR26	An autosomal recessive cerebellar ataxia that has_..[+] An autosomal recessive cerebellar ataxia that has_material_basis_in compound heterozygous mutation in the XRCC1 gene on chromosome 19q13. [-]
autosomal recessive nonsyndromic deafness 106		An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the EPS8L2 gene on chromosome 11p15. [-]
autosomal recessive nonsyndromic deafness 108		An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the ROR1 gene on chromosome 1p31. [-]
autosomal dominant nonsyndromic deafness 73		An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PTPRQ gene on chromosome 12q21. [-]

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