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Disease	Synonyms	Description	Articles	Phenotypes
autosomal dominant Emery-Dreifuss muscular dystrophy 2	scapuloilioperoneal atrophy with cardiopathy; auto.. [+] scapuloilioperoneal atrophy with cardiopathy; autosomal dominant limb-girdle muscular dystrophy type 1B; EDMD2; EMD2; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Emery-Dreifuss muscular dystrophy, autosomal dominant; Hauptmann-Thannhauser muscular dystrophy; muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant [-]	An Emery-Dreifuss muscular dystrophy that has_mate..[+] An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22. [-]
congenital disorder of glycosylation type IIf	SLC35A1-CDG; Carbohydrate deficient glycoprotein s.. [+] SLC35A1-CDG; Carbohydrate deficient glycoprotein syndrome type IIf; CDG IIf; CDG2F; CDGIIdf; CMP-sialic acid transporter deficiency [-]	A congenital disorder of glycosylation type II tha..[+] A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15. [-]
congenital disorder of glycosylation type IIm	SLC35A2-CDG; congenital disorder of glycosylation .. [+] SLC35A2-CDG; congenital disorder of glycosylation type 2m; developmental and epileptic encephalopathy 22; epileptic encephalopathy, early infantile, 22 [-]	A congenital disorder of glycosylation type II tha..[+] A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23. [-]
congenital disorder of glycosylation type IIn	SLC39A8-CDG; Carbohydrate deficient glycoprotein s.. [+] SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn; CDG IIn; CDG syndrome type IIn; CDG2N; CDGIIdn; Congenital disorder of glycosylation type 2n [-]	A congenital disorder of glycosylation type II tha..[+] A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24. [-]
miliaria profunda	SNOMEDCT_US_2020_03_01:47317002; ICD10CM:L74.2	A miliaria that is characterized by ductal occlusi..[+] A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash. [-]
autosomal recessive spinocerebellar ataxia 28	SCAR28	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria that has_material_basis_in homozygous mutation in the THG1L gene on chromosome 5q33. [-]
autosomal recessive spinocerebellar ataxia 29	SCAR29	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the VPS41 gene on chromosome 7p14. [-]
autosomal recessive spinocerebellar ataxia 30	SCAR30	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia that has_material_basis_in homozygous mutation in the PITRM1 gene on chromosome 10p15. [-]
autosomal recessive spinocerebellar ataxia 31	SCAR31	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by global developmental delay with hypotonia and variably impaired intellectual and language development that has_material_basis_in homozygous or compound heterozygous mutation in the ATG7 gene on chromosome 3p25. [-]
autosomal recessive spinocerebellar ataxia 32	SCAR32	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by onset of gait ataxia in the second or third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the PRDX3 gene on chromosome 10q26. [-]
autosomal recessive spinocerebellar ataxia 33	SCAR33	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by delayed motor development apparent in infancy, unsteady ataxic gait, intention tremor, nystagmus, and speech delay with dysarthria that has_material_basis_in homozygous mutation in the RNU12 gene on chromosome 22q13. [-]
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. [-]
mitochondrial DNA depletion syndrome 5	succinate-CoA ligase deficiency	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the beta subunit of the succinate-CoA ligase gene on chromosome 13q14. [-]
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. [-]
nephrotic syndrome type 2	steroid-resistant autosomal recessive nephrotic sy.. [+] steroid-resistant autosomal recessive nephrotic syndrome [-]	A familial nephrotic syndrome characterized by ste..[+] A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31. [-]
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. [-]

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