| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
|
CST3-related cerebral amyloid angiopathy
|
Amyloidosis, Cerebroarterial, Icelandic Type; Amyl..
[+]
Amyloidosis, Cerebroarterial, Icelandic Type; Amyloidosis VI; Cerebral Hemorrhage, Hereditary, with Amyloidosis; HCHWA; Hereditary Cerebral Hemorrhage with Amyloidosis; Cerebral Hemorrhage, Hereditary, with Amyloidosis, Icelandic Variant; Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant
[-]
|
A cerebral amyloid angiopathy that has_material_ba.. [+]A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of the CST3 gene on chromosome 20p11.21.
[-]
|
|
|
|
NESCAV syndrome
|
autosomal dominant non-syndromic intellectual disa..
[+]
autosomal dominant non-syndromic intellectual disability 9; autosomal dominant mental retardation 9; autosomal dominant intellectual disability 9; MRD9; NESCAVS; neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3.
[-]
|
|
|
|
Coffin-Siris syndrome 1
|
autosomal dominant mental retardation 12; CSS1; fi..
[+]
autosomal dominant mental retardation 12; CSS1; fifth digit syndrome; MRD12
[-]
|
A Coffin-Siris syndrome that has_material_basis_in.. [+]A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3.
[-]
|
|
|
|
Coffin-Siris syndrome 2
|
autosomal dominant mental retardation 14; CSS2; MR..
[+]
autosomal dominant mental retardation 14; CSS2; MRD14
[-]
|
A Coffin-Siris syndrome that has_material_basis_in.. [+]A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11.
[-]
|
|
|
|
Coffin-Siris syndrome 3
|
autosomal dominant mental retardation 15; CSS3; MR..
[+]
autosomal dominant mental retardation 15; CSS3; MRD15
[-]
|
A Coffin-Siris syndrome that has_material_basis_in.. [+]A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23.
[-]
|
|
|
|
Coffin-Siris syndrome 4
|
autosomal dominant mental retardation 16; CSS4; MR..
[+]
autosomal dominant mental retardation 16; CSS4; MRD16
[-]
|
A Coffin-Siris syndrome that has_material_basis_in.. [+]A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2.
[-]
|
|
|
|
Schuurs-Hoeijmakers Syndrome
|
autosomal dominant mental retardation 17; MRD17; S..
[+]
autosomal dominant mental retardation 17; MRD17; SHMS
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2.
[-]
|
|
|
|
GAND syndrome
|
autosomal dominant non-syndromic intellectual disa..
[+]
autosomal dominant non-syndromic intellectual disability 18; autosomal dominant intellectual developmental disorder 18; autosomal dominant mental retardation 18; MRD18
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the GATAD2B gene on chromosome 1q21.3.
[-]
|
|
|
|
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
|
autosomal dominant mental retardation 20; MRD20; m..
[+]
autosomal dominant mental retardation 20; MRD20; mental retardation, autosomal dominant 20
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities and that has_material_basis_in an autosomal dominant mutation of the MEF2C gene on chromosome 5q14.3.
[-]
|
1 articles
|
|
|
Vulto-van Silfout-de Vries syndrome
|
autosomal dominant non-syndromic intellectual disa..
[+]
autosomal dominant non-syndromic intellectual disability 24; autosomal dominant mental retardation 24; MRD24; IDDISBAS; intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures; VSVS
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of the DEAF1 gene on chromosome 11p15.5.
[-]
|
|
|
|
Xia-Gibbs Syndrome
|
autosomal dominant mental retardation 25; MRD25
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3.
[-]
|
|
|
|
Coffin-Siris syndrome 9
|
autosomal dominant non-syndromic intellectual disa..
[+]
autosomal dominant non-syndromic intellectual disability 27; autosomal dominant mental retardation 27; MRD27
[-]
|
An Coffin-Siris syndrome characterized by mild int.. [+]An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2.
[-]
|
|
|
|
Helsmoortel-Van Der Aa Syndrome
|
autosomal dominant mental retardation 28; HVDAS; M..
[+]
autosomal dominant mental retardation 28; HVDAS; MRD28
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13.
[-]
|
|
|
|
White-Sutton syndrome
|
autosomal dominant mental retardation 37; MRD37; W..
[+]
autosomal dominant mental retardation 37; MRD37; WHSUS
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the POGZ gene on chromosome 1q21.3.
[-]
|
|
|
|
oculocutaneous albinism type IB
|
Albinism, Yellow Mutant Type; OCA1B
|
An oculocutaneous albinism that has_material_basis.. [+]An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity.
[-]
|
|
|
|
spermatogenic failure 16
|
acephalic spermatozoa syndrome; SPGF16
|
A male infertility due to acephalic spermatozoa th.. [+]A male infertility due to acephalic spermatozoa that is characterized by autosomal recessive inheritance of acephalic spermatozoa that has_material_basis_in mutation in the SUN5 gene on chromosome 20q11.
[-]
|
|
|
|
familial hyperinsulinemic hypoglycemia 2
|
Autosomal recessive hyperinsulinemic hypoglycemia ..
[+]
Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency; HHF2; hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia
[-]
|
A hyperinsulinemic hypoglycemia characterized by a.. [+]A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1.
[-]
|
|
|
|
congenital disorder of glycosylation type IIa
|
Alkuraya syndrome; carbohydrate-deficient glycopro..
[+]
Alkuraya syndrome; carbohydrate-deficient glycoprotein syndrome, type II; CDG IIa; CDG2A; CDGIIa; CDGS2; congenital disorder of glycosylation, type IIa; mental retardation, growth retardation, prominent columella, and open mouth
[-]
|
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 MGAT2 gene on chromosome 14q21.3.
[-]
|
|
|
|
hereditary spastic paraplegia 70
|
autosomal recessive spastic paraplegia 70; SPG70
|
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
|
autosomal dominant spastic paraplegia 79A; SPG79A; ..
[+]
autosomal dominant spastic paraplegia 79A; SPG79A
[-]
|
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
|
autosomal recessive spastic paraplegia 87; SPG87
|
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
|
autosomal dominant spastic paraplegia 88; SPG88
|
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
|
autosomal recessive spastic paraplegia 89; SPG89
|
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
|
autosomal dominant spastic paraplegia 90A; SPG90A; ..
[+]
autosomal dominant spastic paraplegia 90A; SPG90A
[-]
|
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
|
autosomal recessive spastic paraplegia 90B; SPG90B..
[+]
autosomal recessive spastic paraplegia 90B; SPG90B
[-]
|
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.
[-]
|
|
|
|
spinocerebellar ataxia with axonal neuropathy type 3
|
autosomal recessive spinocerebellar ataxia with ax..
[+]
autosomal recessive spinocerebellar ataxia with axonal neuropathy 3; SCAN3; spinocerebellar ataxia with axonal neuropathy 3
[-]
|
An autosomal recessive cerebellar ataxia character.. [+]An autosomal recessive cerebellar ataxia characterized by onset of slowly progressive axonal peripheral neuropathy in the first decade of life, evident in distal muscle weakness and atrophy and distal sensory impairment, followed by cerebellar ataxia and atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the COA7 gene on chromosome 1p32.3.
[-]
|
|
|
|
Parkinson's disease 25
|
autosomal recessive early-onset Parkinson disease ..
[+]
autosomal recessive early-onset Parkinson disease 25 with impaired intellectual development; PARK25
[-]
|
An early-onset Parkinson's disease characterized b.. [+]An early-onset Parkinson's disease characterized by mild to moderately impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PTPA gene on chromosome 9q34.11.
[-]
|
|
|
|
early-onset vitamin B6-dependent epilepsy 4
|
antiquitin deficiency; AASA dehydrogenase deficien..
[+]
antiquitin deficiency; AASA dehydrogenase deficiency; EPEO4; PDE-ALDH7A1
[-]
|
A pyridoxine-dependent epilepsy that has_material_.. [+]A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2.
[-]
|
|
|
|
peeling skin syndrome 2
|
acral peeling skin syndrome; APSS; localized peeli..
[+]
APSS; acral peeling skin syndrome; localized peeling skin syndrome; PSS2
[-]
|
A peeling skin syndrome that has_material_basis_in.. [+]A peeling skin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TGM5 gene on chromosome 15q15.2.
[-]
|
|
|
|
peeling skin syndrome 4
|
AREI; autosomal recessive exfoliative ichthyosis; ..
[+]
autosomal recessive exfoliative ichthyosis; AREI; exfoliative ichthyosis; ichthyosis bullosa of Siemens-like; ichthyosis exfoliativa; PSS4
[-]
|
A peeling skin syndrome that has_material_basis_in.. [+]A peeling skin syndrome that has_material_basis_in homozygous mutation in the CSTA gene on chromosome 3q21.1.
[-]
|
|
|
|
peeling skin syndrome 5
|
autosomal recessive exfoliative ichthyosis; exfoli..
[+]
autosomal recessive exfoliative ichthyosis; exfoliative ichthyosis; ichthyosis exfoliativa; PSS5
[-]
|
A peeling skin syndrome that has_material_basis_in.. [+]A peeling skin syndrome that has_material_basis_in homozygous mutation in the SERPINB8 gene on chromosome 18q22.1.
[-]
|
|
|
|
Worth syndrome
|
autosomal dominant osteosclerosis; autosomal domin..
[+]
autosomal dominant osteosclerosis; autosomal dominant endosteal hyperostosis; benign form of Worth hyperostosis corticalis generalisata with torus platinus; Worth syndrome; Worth's syndrome
[-]
|
A hyperostosis that has_material_basis_in a mutati.. [+]A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate.
[-]
|
|
|
|
nonsyndromic congenital nail disorder 4
|
anonychia congenita; HYPONYCHIA CONGENITA
|
A nonsyndromic congenital nail disorder that is ch.. [+]A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13.
[-]
|
|
|
|
myofibrillar myopathy 1
|
autosomal recessive limb-girdle muscular dystrophy..
[+]
autosomal recessive limb-girdle muscular dystrophy type 2R; desminopathy
[-]
|
A myofibrillar myopathy that has_material_basis_in.. [+]A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35.
[-]
|
|
|
|
myofibrillar myopathy 2
|
alpha-b crystallinopathy
|
A myofibrillar myopathy that has_material_basis_in.. [+]A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23.
[-]
|
|
|
|
myofibrillar myopathy 3
|
autosomal dominant limb-girdle muscular dystrophy ..
[+]
autosomal dominant limb-girdle muscular dystrophy type 1A; myotilinopathy; LGMD 1A; spheroid body myopathy
[-]
|
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.
[-]
|
|
|
|
myofibrillar myopathy 7
|
alpha-b crystalin-related fatal infantile hyperton..
[+]
alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy
[-]
|
n_a
|
|
|
|
otulipenia
|
autoinflammation, panniculitis and dermatosis synd..
[+]
autoinflammation, panniculitis and dermatosis syndrome; otulin-related autoinflammatory syndrome
[-]
|
An immune system disease that is characterized by .. [+]An immune system disease that is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in autosomal recessive inheritance of homozygous loss-of-function mutations in the OTULIN gene encoding a deubiquitinase with linear linkage specificity on chromosome 5p15.
[-]
|
|
|
|
Clark-Baraitser syndrome
|
autosomal dominant mental retardation 49; autosoma..
[+]
autosomal dominant mental retardation 49; autosomal dominant intellectual disability 49; Baraitser syndrome; CLABARS
[-]
|
An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36.
[-]
|
|
|
|
developmental and epileptic encephalopathy 39
|
AGC1 deficiency; early infantile epileptic encepha..
[+]
AGC1 deficiency; early infantile epileptic encephalopathy 39; epileptic encephalopathy with global cerebral demyelination
[-]
|
A developmental and epileptic encephalopathy chara.. [+]A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31.
[-]
|
|
|
|
pustular psoriasis 14
|
acrodermatitis continua of Hallopeau; deficiency o..
[+]
acrodermatitis continua of Hallopeau; deficiency of IL-36R antagonist
[-]
|
A psoriasis characterized by sudden, repeated epis.. [+]A psoriasis characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein that has_material_basis_in homozygous or compound heterozygous mutation in the IL36RN gene on chromosome 2q14.
[-]
|
|
|
|
thyroid gland anaplastic carcinoma
|
anaplastic thyroid carcinoma
|
A thyroid gland carcinoma that is composed of undi.. [+]A thyroid gland carcinoma that is composed of undifferentiated cells.
[-]
|
|
|
|
congenital disorder of glycosylation Ig
|
ALG12-congenital disorder of glycosylation; congen..
[+]
ALG12-congenital disorder of glycosylation; congenital disorder of glycosylation 1g
[-]
|
A congenital disorder of glycosylation I that is c.. [+]A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13.
[-]
|
|
|
|
corticosterone methyloxidase deficiency 1
|
aldosterone synthase deficiency
|
An adrenal gland disease that is characterized by .. [+]An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life.
[-]
|
|
|
|
Sweet syndrome
|
Acute Febrile Neutrophilic Dermatosis; Sweet's syn..
[+]
Acute Febrile Neutrophilic Dermatosis; Sweet's syndrome
[-]
|
A skin disease that is characterized by sudden ons.. [+]A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions.
[-]
|
|
|
|
IDH-mutant and 1p/19q-codeleted oligodendroglioma
|
anaplastic oligodendroglioma, IDH-mutant and 1p/19..
[+]
anaplastic oligodendroglioma, IDH-mutant and 1p/19q-codeleted; Oligodendroglioma, IDH-mutant and 1p/19q-codeleted
[-]
|
An anaplastic oligodendroglioma that has_material_.. [+]An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion).
[-]
|
|
|
|
Bainbridge-Ropers syndrome
|
ASXL3-related disorder
|
A syndrome that is characterized by delayed psycho.. [+]A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12.
[-]
|
1 articles
|
|
|
dialysis-related amyloidosis
|
Amyloidosis Beta2M; Aβ2M amyloidosis; ABeta2M amyl..
[+]
Aβ2M amyloidosis; Amyloidosis Beta2M; ABeta2M amyloidosis; Beta2-microglobulinic amyloidosis; dialysis-related beta2-microglobulin amyloidosis
[-]
|
An amyloidosis that is characterized by the deposi.. [+]An amyloidosis that is characterized by the deposition of amyloid fibrils, principally composed of β2 microglobulins (β2M), in the osteoarticular structures and viscera and that is a serious complication of long-term dialysis therapy.
[-]
|
|
|
|
primary localized cutaneous amyloidosis 3
|
Amyloidosis cutis dyschromica
|
A primary cutaneous amyloidosis that is characteri.. [+]A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that has_material_basis_in homozygous or compound heterozygous mutation in the GPNMB gene on chromosome 7p15. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions.
[-]
|
|
|
|
immunoglobulin light chain amyloidosis
|
AL amyloidosis; Amyloidosis primary systemic; Ligh..
[+]
Amyloidosis primary systemic; AL amyloidosis; Light chain amyloidosis; Primary AL amyloidosis; Primary systemic AL amyloidosis; Primary systemic amyloidosis; Systemic AL amyloidsis
[-]
|
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.
[-]
|
|
|
