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Disease	Synonyms	Description	Articles	Phenotypes
hereditary spastic paraplegia 70	SPG70; autosomal recessive spastic paraplegia 70	A hereditary spastic paraplegia characterized by i..[+] A hereditary spastic paraplegia characterized by infantile onset of motor delay and difficulties walking due to spasticity of the lower limbs that has_material_basis_in compound heterozygous mutation in the MARS1 gene on chromosome 12q13.3. [-]
hereditary spastic paraplegia 79A	SPG79A; autosomal dominant spastic paraplegia 79A; .. [+] SPG79A; autosomal dominant spastic paraplegia 79A [-]	A hereditary spastic paraplegia characterized by s..[+] A hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that has_material_basis_in heterozygous mutation in the UCHL1 gene on chromosome 4p13. [-]
hereditary spastic paraplegia 87	SPG87; autosomal recessive spastic paraplegia 87	A hereditary spastic paraplegia characterized by i..[+] A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM63C gene on chromosome 14q24.3. [-]
hereditary spastic paraplegia 88	SPG88; autosomal dominant spastic paraplegia 88	A hereditary spastic paraplegia characterized by i..[+] A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that slowly progresses with variable severity that has_material_basis_in heterozygous mutation in the KPNA3 gene on chromosome 13q14.2. [-]
hereditary spastic paraplegia 89	SPG89; autosomal recessive spastic paraplegia 89	A hereditary spastic paraplegia characterized by i..[+] A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous mutation in the AMFR gene on chromosome 16q13. [-]
hereditary spastic paraplegia 90A	SPG90A; autosomal dominant spastic paraplegia 90A; .. [+] SPG90A; autosomal dominant spastic paraplegia 90A [-]	A hereditary spastic paraplegia characterized by m..[+] A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in heterozygous mutation in the SPTSSA gene on chromosome 14q13.1. [-]
hereditary spastic paraplegia 90B	SPG90B; autosomal recessive spastic paraplegia 90B.. [+] SPG90B; autosomal recessive spastic paraplegia 90B [-]	A hereditary spastic paraplegia characterized by m..[+] A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in homozygous mutation in the SPTSSA gene on chromosome 14q13.1. [-]
bone disease	skeletal disease	A connective tissue disease that affects the struc..[+] A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. [-]	56 articles	40 matches
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. [-]
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. [-]
pseudoachondroplasia	SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTI.. [+] SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC; PSEUDOACHONDROPLASIA; pseudoachondroplastic dysplasia [-]	An osteochondrodysplasia that has_material_basis_i..[+] An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. [-]
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	SCAR19; Lichtenstein-Knorr syndrome	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. [-]
myofibrillar myopathy 3	spheroid body myopathy; myotilinopathy; autosomal .. [+] spheroid body myopathy; myotilinopathy; autosomal dominant limb-girdle muscular dystrophy type 1A; LGMD 1A [-]	A myofibrillar myopathy that has_material_basis_in..[+] A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31. [-]
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. [-]
cleft palate-lateral synechia syndrome	syngnathia; CPLS syndrome	A physical disorder that is characterized by fusio..[+] A physical disorder that is characterized by fusion of maxilla and mandible. [-]
Dravet syndrome	severe myoclonic epilepsy of infancy; DEE6; develo.. [+] severe myoclonic epilepsy of infancy; DEE6; developmental and epileptic encephalopathy 6; early infantile epileptic encephalopathy 6; DEE6A; developmental and epileptic encephalopathy 6A [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. [-]
COVID-19	SARS-CoV-2 infection; 2019 Novel Coronavirus (2019.. [+] SARS-CoV-2 infection; 2019 Novel Coronavirus (2019-nCoV); 2019-nCoV infection; Wuhan coronavirus infection; Wuhan seafood market pneumonia virus infection; COVID19 [-]	A Coronavirus infectious disease that is character..[+] A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2. [-]
Teebi hypertelorism syndrome 1	SPECC1L-related hypertelorism syndrome; Opitz GBBB.. [+] SPECC1L-related hypertelorism syndrome; Opitz GBBB syndrome type II; Teebi hypertelorism syndrome-1 [-]	A Teebi hypertelorism syndrome that has_material_b..[+] A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2. [-]
caudal regression syndrome	sacral defect with anterior meningocele; sacral ag.. [+] sacral defect with anterior meningocele; sacral agenesis; caudal dysplasia sequence; caudal regression sequence; caudal dysgenesis syndrome [-]	A physical disorder that is characterized by impai..[+] A physical disorder that is characterized by impairment of the development of the lower half of the body. [-]
lung sarcomatoid carcinoma	Sarcomatoid carcinoma of the lung; pulmonary sarco.. [+] Sarcomatoid carcinoma of the lung; pulmonary sarcomatoid carcinoma [-]	A lung carcinoma that is characterized by the pres..[+] A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. [-]
RELA fusion-positive ependymoma	Supratentorial C11ORF95-RELA fused ependymoma; C11.. [+] Supratentorial C11ORF95-RELA fused ependymoma; C11orf95 fusion-positive supratentorial ependymoma [-]	A supratentorial ependymoma that has_material_basi..[+] A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene. [-]
immunoglobulin light chain amyloidosis	Systemic AL amyloidsis; AL amyloidosis; Light chai.. [+] Systemic AL amyloidsis; AL amyloidosis; Light chain amyloidosis; Amyloidosis primary systemic; Primary AL amyloidosis; Primary systemic AL amyloidosis; Primary systemic amyloidosis [-]	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. [-]
wild-type amyloidosis	senile systemic amyloidosis; Age related amyloidos.. [+] senile systemic amyloidosis; Age related amyloidosis; ATTRwt amyloidosis; Old age amyloidosis; wild-type ATTR amyloidosis; wild-type transthyretin cardiac amyloidosis [-]	An amyloidosis that is characterized by progressiv..[+] An amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein. [-]
cauda equina neuroendocrine tumor	Spinal neuroendocrine tumors; Cauda equina neuroen.. [+] Spinal neuroendocrine tumors; Cauda equina neuroendocrine tumour [-]	A cauda equina neoplasm that is a slow-growing, we..[+] A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina. [-]
congenital myopathy 5	Salih myopathy; congenital myopathy-5 with cardiom.. [+] Salih myopathy; congenital myopathy-5 with cardiomyopathy [-]	A congenital myopathy that is characterized by the..[+] A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding titin (TTN) on chromosome 2q31. [-]
autosomal recessive distal hereditary motor neuronopathy 8	SORDD; sorbitol dehydrogenase deficiency with peri.. [+] SORDD; sorbitol dehydrogenase deficiency with peripheral neuropathy [-]	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. [-]
Nicolaides-Baraitser syndrome	SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYND.. [+] SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; Intellectual disability-sparse hair-brachydactyly syndrome [-]	A syndrome that is characterized by severely impai..[+] A syndrome that is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. [-]
blepharophimosis-impaired intellectual development syndrome	SMARCA2-related blepharophimosis-intellectual disa.. [+] SMARCA2-related blepharophimosis-intellectual disability syndrome [-]	A syndrome that is characterized by a distinct fac..[+] A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. [-]
progressive pseudorheumatoid arthropathy of childhood	spondyloepiphyseal dysplasia tarda-progressive art.. [+] spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome [-]	A osteochondrodysplasia characterized by autosomal..[+] A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22. [-]
Cenani-Lenz syndactyly syndrome	syndactyly type 7	A dysostosis characterized by syndactyly, malforma..[+] A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11. [-]
brachyolmia-amelogenesis imperfecta syndrome	STHAG6; selective tooth agenesis 5; dental anomali.. [+] selective tooth agenesis 5; STHAG6; dental anomalies and short stature; DASS; platyspondyly with amelogenesis imperfecta [-]	A syndrome characterized by skeletal dysplasia (br..[+] A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13. [-]
Donnai-Barrow syndrome	syndrome of ocular and facial anomalies, telecanth.. [+] syndrome of ocular and facial anomalies, telecanthus and deafness; diaphragmatic hernia-exomphalos-hypertelorism syndrome; diaphragmatic hernia-hypertelorism-myopia-deafness syndrome; facio-oculo-acoustico-renal syndrome; Holmes-Schepens syndrome; FOAR syndrome; diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria; faciooculoacousticorenal syndrome; DBS/FOAR syndrome [-]	A syndrome that is characterized by facial and ocu..[+] A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31. [-]
asphyxiating thoracic dystrophy 1	SRTD1; short-rib thoracic dysplasia 1 with or with.. [+] SRTD1; short-rib thoracic dysplasia 1 with or without polydactyly; ATD1 [-]	An asphyxiating thoracic dystrophy associated with..[+] An asphyxiating thoracic dystrophy associated with variation in the region 15q13. [-]
asphyxiating thoracic dystrophy 2	SRTD2; short-rib thoracic dysplasia 2 with or with.. [+] SRTD2; short-rib thoracic dysplasia 2 with or without polydactyly; ATD2 [-]	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25. [-]
asphyxiating thoracic dystrophy 3	short rib-polydactyly syndrome, type I; SRPS3; SRT.. [+] SRPS3; short rib-polydactyly syndrome, type I; SRTD3; SRPS2B; SRPS1; short-rib thoracic dysplasia 3 with or without polydactyly; short rib-polydactyly syndrome, type IIB; Saldino-Noonan syndrome; ATD3; polydactyly with neonatal chondrodystrophy, type I; Verma-Naumoff syndrome; polydactyly with neonatal chondrodystrophy, type III [-]	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. [-]
asphyxiating thoracic dystrophy 4	SRTD4; short-rib thoracic dysplasia 4 with or with.. [+] SRTD4; short-rib thoracic dysplasia 4 with or without polydactyly; ATD4 [-]	An asphyxiating thoracic dystrophy has_material_ba..[+] An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. [-]
asphyxiating thoracic dystrophy 5	SRTD5; short-rib thoracic dysplasia 5 with or with.. [+] SRTD5; short-rib thoracic dysplasia 5 with or without polydactyly; ATD5 [-]	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14. [-]
Charcot-Marie-Tooth disease type 4K	SURF1-related severe demyelinating Charcot-Marie-T.. [+] SURF1-related severe demyelinating Charcot-Marie-Tooth disease; SURF1-related CMT4; SURF1-related Charcot-Marie-Tooth disease type 4; autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K; CMT4K; autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K [-]	A Charcot-Marie-Tooth disease type 4 that has_mate..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34. [-]
cleft soft palate	soft cleft palate; cleft velum; cleft velum palati.. [+] soft cleft palate; cleft velum; cleft velum palatinum [-]	A cleft palate that is characterized as a fissure ..[+] A cleft palate that is characterized as a fissure type embryopathy that affects in varying degrees the soft palate. [-]
autosomal recessive limb-girdle muscular dystrophy type 2C	severe childhood autosomal recessive muscular dyst.. [+] severe childhood autosomal recessive muscular dystrophy North African type; SCARMD; autosomal recessive Duchenne-like muscular dystrophy type 1; deficiency of sarcoglycan gamma; DMDA1; gamma-sarcoglycanopathy; LGMD2C; limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; muscular dystrophy, limb-girdle, type 2C; Maghrebian myopathy [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12. [-]

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