???pagination.result.count???
Disease |
Synonyms |
Description |
Articles |
Phenotypes |
muscular dystrophy-dystroglycanopathy type B5
|
congenital muscular dystrophy 1C; FKRP-related con..
[+]
congenital muscular dystrophy 1C; FKRP-related congenital muscular dystrophy; MDC1C; MDDGB5; muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5; muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5
[-]
|
A congenital muscular dystrophy characterized by a.. [+]
A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.
[-]
|
|
|
muscular dystrophy-dystroglycanopathy type B6
|
congenital muscular dystrophy type 1D; congenital ..
[+]
congenital muscular dystrophy type 1D; congenital muscular dystrophy LARGE-related; MDC1D; MDDGB6; muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6; muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6
[-]
|
A congenital muscular dystrophy characterized by a.. [+]
A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.
[-]
|
|
|
Oguchi disease-1
|
CSNBO1; congenital stationary night blindness Oguc..
[+]
CSNBO1; congenital stationary night blindness Oguchi type 1
[-]
|
A hereditary night blindness characterized by cong.. [+]
A hereditary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37.
[-]
|
|
|
Oguchi disease-2
|
CSNBO2; congenital stationary night blindness Oguc..
[+]
CSNBO2; congenital stationary night blindness Oguchi type 2
[-]
|
A congenital stationary night blindness characteri.. [+]
A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34.
[-]
|
|
|
neuronal ceroid lipofuscinosis 4
|
CLN4B disease; autosomal dominant neuronal ceroid ..
[+]
CLN4B disease; autosomal dominant neuronal ceroid lipofuscinosis 4B; neuronal ceroid lipofuscinosis 4 Parry type; neuronal ceroid lipofuscinosis 4B
[-]
|
A neuronal ceroid lipofuscinosis that is character.. [+]
A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13.
[-]
|
|
|
neuronal ceroid lipofuscinosis 1
|
CLN1; neuronal ceroid lipofuscinosis 1 variable ag..
[+]
CLN1; neuronal ceroid lipofuscinosis 1 variable age of onset
[-]
|
A neuronal ceroid lipofuscinosis that is character.. [+]
A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34.
[-]
|
|
|
neuronal ceroid lipofuscinosis 7
|
CLN7
|
A neuronal ceroid lipofuscinosis that is character.. [+]
A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28.
[-]
|
|
|
neuronal ceroid lipofuscinosis 8
|
CLN8
|
A neuronal ceroid lipofuscinosis that is character.. [+]
A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23.
[-]
|
|
|
neuronal ceroid lipofuscinosis 10
|
Cathepsin D deficiency; CLN10; neuronal ceroid lip..
[+]
CLN10; Cathepsin D deficiency; neuronal ceroid lipofuscinosis cathepsin D-deficient; neuronal ceroid lipofuscinosis due to cathepsin D deficiency
[-]
|
A neuronal ceroid lipofuscinosis that has_material.. [+]
A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15.
[-]
|
|
|
neuronal ceroid lipofuscinosis 2
|
CLN2; neuronal ceroid lipofuscinosis 2 variable ag..
[+]
CLN2; neuronal ceroid lipofuscinosis 2 variable age at onset
[-]
|
A neuronal ceroid lipofuscinosis that is character.. [+]
A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15.
[-]
|
|
|
neuronal ceroid lipofuscinosis 13
|
CLN13; neuronal ceroid lipofuscinosis 13 Kufs type..
[+]
CLN13; neuronal ceroid lipofuscinosis 13 Kufs type
[-]
|
A neuronal ceroid lipofuscinosis that is character.. [+]
A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13.
[-]
|
|
|
neuronal ceroid lipofuscinosis 5
|
CLN5; neuronal ceroid lipofuscinosis 5 variable ag..
[+]
CLN5; neuronal ceroid lipofuscinosis 5 variable age of onset
[-]
|
A neuronal ceroid lipofuscinosis that is character.. [+]
A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22.
[-]
|
|
|
neuronal ceroid lipofuscinosis 6
|
CLN6; neuronal ceroid lipofuscinosis 6 variable ag..
[+]
CLN6; neuronal ceroid lipofuscinosis 6 variable age of onset
[-]
|
A neuronal ceroid lipofuscinosis that is character.. [+]
A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23.
[-]
|
|
|
neuronal ceroid lipofuscinosis 4A
|
CLN4A; autosomal recessive neuronal ceroid lipofus..
[+]
CLN4A; autosomal recessive neuronal ceroid lipofuscinosis 4A
[-]
|
A neuronal ceroid lipofuscinosis that is character.. [+]
A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive dementia, seizures, and progressive visual failure and lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23.
[-]
|
|
|
neuronal ceroid lipofuscinosis 3
|
CLN3; Batten disease; juvenile neuronal ceroid lip..
[+]
CLN3; Batten disease; juvenile neuronal ceroid lipofuscinosis
[-]
|
A neuronal ceroid lipofuscinosis that is character.. [+]
A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11.
[-]
|
|
|
neuronal ceroid lipofuscinosis 11
|
CLN11
|
A neuronal ceroid lipofuscinosis that is character.. [+]
A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q.
[-]
|
|
|
neuronal ceroid lipofuscinosis 9
|
CLN9
|
A neuronal ceroid lipofuscinosis that is character.. [+]
A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive vision loss, progressive ataxia and seziures.
[-]
|
|
|
neurodegeneration with brain iron accumulation 6
|
CoPAN; NBIA6; Neurodegeneration with brain iron ac..
[+]
CoPAN; NBIA6; Neurodegeneration with brain iron accumulation due to COASY mutation
[-]
|
A neurodegeneration with brain iron accumulation t.. [+]
A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2.
[-]
|
|
|
hereditary spastic paraplegia 47
|
CPSQ5; autosomal recessive spastic paraplegia 47; ..
[+]
CPSQ5; autosomal recessive spastic paraplegia 47; spastic quadriplegic cerebral palsy 5; SPG47
[-]
|
A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13.
[-]
|
|
|
hereditary spastic paraplegia 50
|
CPSQ3; autosomal recessive spastic paraplegia 50; ..
[+]
CPSQ3; autosomal recessive spastic paraplegia 50; spastic quadriplegic cerebral palsy 3; SPG50
[-]
|
A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1.
[-]
|
|
|
hereditary spastic paraplegia 51
|
CPSQ4; autosomal dominant spastic paraplegia 51; s..
[+]
CPSQ4; autosomal dominant spastic paraplegia 51; spastic quadriplegic cerebral palsy 4; SPG51
[-]
|
A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21.
[-]
|
|
|
hereditary spastic paraplegia 52
|
CPSQ6; autosomal recessive spastic paraplegia 52; ..
[+]
CPSQ6; autosomal recessive spastic paraplegia 52; spastic quadriplegic cerebral palsy 6; SPG52
[-]
|
A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12.
[-]
|
|
|
hereditary spastic paraplegia 9A
|
cataracts with motor neuronopathy, short stature a..
[+]
cataracts with motor neuronopathy, short stature and skeletal abnormalities; Cataracts motor neuropathy-short stature-skeletal anomalies syndrome; AD-SPG9A; autosomal dominant complex spastic paraplegia type 9A; autosomal dominant spastic paraplegia 9A; spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux; spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome; SPG9A
[-]
|
A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in mutation in the ALDH18A1 gene on chromosome 10q24.
[-]
|
|
|
rhizomelic chondrodysplasia punctata type 2
|
Chondrodysplasia Punctata, Rhizomelic, Due To Dihy..
[+]
Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency; Dhapat Deficiency; Dihydroxyacetonephosphate Acyltransferase Deficiency; Glyceronephosphate O-Acyltransferase Deficiency; Gnpat Deficiency; Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency; Rcdp2
[-]
|
A rhizomelic chondrodysplasia punctata that has_ma.. [+]
A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2.
[-]
|
|
|
posterior polymorphous corneal dystrophy 1
|
Corneal Endothelial Dystrophy 1, Autosomal Dominan..
[+]
Corneal Endothelial Dystrophy 1, Autosomal Dominant; Ched1; Maumenee Corneal Dystrophy; Ppcd1
[-]
|
A posterior polymorphous corneal dystrophy that ha.. [+]
A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.
[-]
|
|
|
nemaline myopathy 3
|
congenital myopathy 2A; NEM3; nemaline myopathy 3,..
[+]
congenital myopathy 2A; NEM3; nemaline myopathy 3, autosomal dominant or recessive
[-]
|
A nemaline myopathy that has_material_basis_in hom.. [+]
A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.
[-]
|
|
|
nemaline myopathy 4
|
CAP myopathy 2; NEM4; nemaline myopathy 4, autosom..
[+]
CAP myopathy 2; NEM4; nemaline myopathy 4, autosomal dominant
[-]
|
A nemaline myopathy that has_material_basis_in het.. [+]
A nemaline myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.
[-]
|
|
|
autosomal recessive osteopetrosis 3
|
carbonic anhydrase II deficiency; autosomal recess..
[+]
carbonic anhydrase II deficiency; autosomal recessive osteopetrosis 3 with renal tubular acidosis; Guibaud-Vainsel syndrome; marble brain disease; OPTB3; osteopetrosis with renal tubular acidosis
[-]
|
An osteopetrosis characterized by autosomal recess.. [+]
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21.
[-]
|
|
|
brachydactyly-preaxial hallux varus syndrome
|
Christian brachydactyly; preaxial brachydactyly wi..
[+]
Christian brachydactyly; preaxial brachydactyly with hallux varus and thumb abduction
[-]
|
A brachydactyly characterized by autosomal dominan.. [+]
A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges.
[-]
|
|
|
Joubert syndrome 1
|
cerebelloparenchymal disorder IV; CORS1; CPD4; cer..
[+]
CPD4; CORS1; cerebelloparenchymal disorder IV; cerebellooculorenal syndrome 1; JBTS1
[-]
|
A Joubert syndrome that has_material_basis_in homo.. [+]
A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34.
[-]
|
|
|
Joubert syndrome 2
|
CORS2; cerebellooculorenal syndrome 2; JBTS2
|
A Joubert syndrome characterized by molar tooth si.. [+]
A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2.
[-]
|
|
|
X-linked cone-rod dystrophy 2
|
CORDX2; COD2; X-linked cone dystrophy 2
|
A cone-rod dystrophy that has_material_basis_in va.. [+]
A cone-rod dystrophy that has_material_basis_in variation in the chromosome region Xq27.
[-]
|
|
|
X-linked cone-rod dystrophy 3
|
CORDX3
|
A cone-rod dystrophy that has_material_basis_in mu.. [+]
A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.
[-]
|
|
|
X-linked cone-rod dystrophy 1
|
CORDX1; COD1; X-linked cone dystrophy 1
|
A cone-rod dystrophy that has_material_basis_in mu.. [+]
A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11.
[-]
|
|
|
platelet-type bleeding disorder 9
|
collagen platelet receptor deficiency; BDPLT9; gly..
[+]
collagen platelet receptor deficiency; BDPLT9; glycoprotein Ia deficiency; GP Ia deficiency
[-]
|
A blood platelet disease characterized by autosoma.. [+]
A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2.
[-]
|
|
|
platelet-type bleeding disorder 10
|
CD36 deficiency; BDPLT10; platelet glycoprotein IV..
[+]
CD36 deficiency; BDPLT10; platelet glycoprotein IV deficiency
[-]
|
An inherited blood coagulation disease characteriz.. [+]
An inherited blood coagulation disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21.
[-]
|
|
|
familial hypobetalipoproteinemia 2
|
combined familial hypolipidemia; FHBL2
|
A hypobetalipoproteinemia that has material_basis_.. [+]
A hypobetalipoproteinemia that has material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31.
[-]
|
|
|
hyperphosphatemic familial tumoral calcinosis
|
cortical hyperostosis with hyperphosphatemia; fami..
[+]
cortical hyperostosis with hyperphosphatemia; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome; familial Teutschlaender disease; HFTC; HHS; hypercalcemic tumoral calcinosis; hyperostosis with hyperphosphatemia; hyperphosphatemia hyperostosis; hyperphosphatemia hyperostosis syndrome; hyperphosphatemia tumoral calcinosis; lipocalcinogranulomatosis; morbus Teutschlaender; PHPTC; primary hyperphosphatemic tumoral calcinosis; tumoral calcinosis with hyperphosphatemia
[-]
|
A calcinosis characterized by autosomal recessive .. [+]
A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene.
[-]
|
|
|
maturity-onset diabetes of the young type 5
|
congenital anomalies of the kidney and urinary tra..
[+]
congenital anomalies of the kidney and urinary tract with diabetes; CAKUT with diabetes; atypical familial juvenile hyperuricemic nephropathy; atypical FJHN; familial hypoplastic glomerulocystic kidney; hypoplastic type glomerulocystic kidney disease; MODY5; RCAD; renal cysts and diabetes syndrome
[-]
|
A maturity-onset diabetes of the young characteriz.. [+]
A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12.
[-]
|
|
|
IGSF1 deficiency syndrome
|
CHTE; central hypothyroidism and testicular enlarg..
[+]
CHTE; central hypothyroidism and testicular enlargement; X-linked central congenital hypothyroidism with late-onset macroorchidism; X-linked central congenital hypothyroidism with late-onset testicular enlargement
[-]
|
An X-linked disease characterized by hypothyroidis.. [+]
An X-linked disease characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26.
[-]
|
|
|
partial trisomy distal 4q
|
Chromosome 4, Partial Trisomy 4q (4q21-qter to 4q3..
[+]
Chromosome 4, Partial Trisomy 4q (4q21-qter to 4q32-qter, included); Chromosome 4, Partial Trisomy 4q (4q2 and 4q3, included); Distal 4q Trisomy; Dup(4q) Syndrome, Partial; Duplication 4q Syndrome, Partial; Partial Trisomy 4q Syndrome
[-]
|
A chromosomal duplication syndrome characterized b.. [+]
A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q.
[-]
|
|
|
molybdenum cofactor deficiency type B
|
combined deficiency of sulfite oxidase, xanthine d..
[+]
combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B; MOCOD type B; MOCODB; molybdenum cofactor deficiency complementation group B
[-]
|
A molybdenum cofactor deficiency that has_material.. [+]
A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11.
[-]
|
|
|
molybdenum cofactor deficiency type A
|
combined deficiency of sulfite oxidase, xanthine d..
[+]
combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A; MOCOD type A; MOCODA; molybdenum cofactor deficiency complementation group A
[-]
|
A molybdenum cofactor deficiency that has_material.. [+]
A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21.
[-]
|
|
|
molybdenum cofactor deficiency
|
combined deficiency of sulfite oxidase, xanthine d..
[+]
combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase; MOCOD
[-]
|
A metal metabolism disease characterized by enceph.. [+]
A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage.
[-]
|
|
|
molybdenum cofactor deficiency type C
|
combined deficiency of sulfite oxidase, xanthine d..
[+]
combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C; MOCOD type C; MOCODC; molybdenum cofactor deficiency complementation group C
[-]
|
A molybdenum cofactor deficiency that has_material.. [+]
A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23.
[-]
|
|
|
Jackson-Weiss syndrome
|
craniosynostosis-midfacial hypoplasia-foot abnorma..
[+]
craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; JWS
[-]
|
A syndrome characterized by craniosynostosis, midf.. [+]
A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13.
[-]
|
|
|
large congenital melanocytic nevus
|
Congenital pigmented nevus; Giant congenital melan..
[+]
Congenital pigmented nevus; Giant congenital melanocytic nevus; Giant pigmented hairy nevus; GMN; LCMN
[-]
|
A skin disease characterized by the presence at bi.. [+]
A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5.
[-]
|
|
|
isolated hyperchlorhidrosis
|
carbonic anhydrase XII deficiency; HYCHL
|
A skin disease characterized by excessive loss of .. [+]
A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the CA12 gene on chromosome 15q22.2.
[-]
|
|
|
familial lipase maturation factor 1 deficiency
|
combined lipase deficiency; familial LMF1 deficien..
[+]
combined lipase deficiency; familial LMF1 deficiency; lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency; LPL and HL deficiency; LPL and HTGL deficiency
[-]
|
A familial chylomicronemia syndrome characterized .. [+]
A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in the LMF1 gene on chromosome 16p13.3.
[-]
|
|
|
retinal vasculopathy with cerebral leukodystrophy
|
CRV; hereditary cerebroretinal vasculopathy; retin..
[+]
CRV; hereditary cerebroretinal vasculopathy; retinal vasculopathy and cerebral leukoencephalopathy; retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena; RVCL; RVCL-S
[-]
|
A vascular disease characterized by adult onset of.. [+]
A vascular disease characterized by adult onset of microvascular endotheliopathy resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline that has_material_basis_in heterozygous mutation in TREX1 on chromosome 3p21.31.
[-]
|
|
|