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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
Martsolf syndrome
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cataract-intellectual disability-hypogonadism synd..
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cataract-intellectual disability-hypogonadism syndrome
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A syndrome characterized by intellectual deficit, .. [+]
A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41.
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Gordon Holmes syndrome
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CAHH; cerebellar ataxia-hypogonadism syndrome; LHR..
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cerebellar ataxia-hypogonadism syndrome; CAHH; LHRH deficiency and ataxia; GDHS; luteinizing hormone-releasing hormone deficiency with ataxia
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An inherited metabolic disorder characterized by p.. [+]
An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in the RNF216 gene on chromosome 7p22.1.
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Freeman-Sheldon syndrome
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craniocarpotarsal dystrophy; craniocarpotarsal dys..
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craniocarpotarsal dystrophy; craniocarpotarsal dysplasia; whistling face syndrome; whistling face-windmill vane hand syndrome
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A distal arthrogryposis characterized by microstom.. [+]
A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures.
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distal arthrogryposis type 3
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camptodactyly-cleft palate-clubfoot syndrome; DA3; ..
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camptodactyly-cleft palate-clubfoot syndrome; DA3; distal arthrogryposis multiplex congenita type IIA; Gordon syndrome
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A distal arthrogryposis characterized by distal ar.. [+]
A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21.
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Temtamy syndrome
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craniofacial dysmorphism-coloboma-corpus callosum ..
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craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome; craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation; dysmorphism, corpus callosum agenesis and colobomas; Temtamy-Shalash syndrome
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A syndrome characterized by variable craniofacial .. [+]
A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31.
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ACTH-independent macronodular adrenal hyperplasia
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Cushing syndrome due to macronodular adrenal hyper..
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Cushing syndrome due to macronodular adrenal hyperplasia; corticotropin-independent macronodular adrenal hyperplasia; ACTH-independent macronodular adrenocortical hyperplasia; adrenocorticotropic hormone-independent macronodular adrenal hyperplasia; massive macronodular adrenocortical disease; Primary macronodular adrenal hyperplasia; primary macronodular adrenal hyperplasia; AIMAH; MMAD
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A primary hyperaldosteronism characterized by mult.. [+]
A primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol.
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ventriculomegaly - cystic kidney disease
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cystic kidney disease with ventriculomegaly; conge..
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cystic kidney disease with ventriculomegaly; congenital nephrosis-cerebral ventriculomegaly syndrome; ventriculomegaly with cystic kidney disease; VMCKD
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A syndrome characterized by onset in utero of dila.. [+]
A syndrome characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts that has_material_basis_in homozygous or compound heterozygous mutation in the CRB2 gene on chromosome 9q33.3.
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ectodermal dysplasia 1
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CST syndrome; Christ-Siemens-Touraine syndrome; ec..
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Christ-Siemens-Touraine syndrome; CST syndrome; ectodermal dysplasia 1, anhidrotic; ED1; HED1; hypohidrotic ectodermal dysplasia, X-Linked; X-linked anhidrotic ectodermal dysplasia; XHED; XLHED; ectodermal dysplasia 1, hypohidrotic, X-linked; ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked
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A hypohidrotic ectodermal dysplasia that has_mater.. [+]
A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1.
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proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
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cerebral proliferative glomeruloid vasculopathy; e..
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cerebral proliferative glomeruloid vasculopathy; encephaloclastic proliferative vasculopathy; EPV; Fowler syndrome; Fowler vasculopathy; hydrocephaly/hydranencephaly due to cerebral vasculopathy; proliferative vasculopathy and hydranencephaly/hydrocephaly; PVHH; hydranencephaly, Fowler type
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A syndrome characterized by hydranencephaly, glome.. [+]
A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR2 gene on chromosome 14q24.3.
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enterokinase deficiency
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congenital enteropathy due to enteropeptidase defi..
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congenital enteropathy due to enteropeptidase deficiency; congenital enterokinase deficiency; deficiency of enteropeptidase
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An intestinal disease characterized by early-onset.. [+]
An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in the TMPRSS15 gene on chromosome 21q21.1.
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high molecular weight kininogen deficiency
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congenital high-molecular-weight kininogen deficie..
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congenital high-molecular-weight kininogen deficiency; HMWK deficiency; Fitzgerald trait
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A blood coagulation disease characterized by defic.. [+]
A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene.
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hereditary folate malabsorption
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congenital folate malabsorption; congenital defect..
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congenital folate malabsorption; congenital defect of folate absorption
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A vitamin metabolic disorder characterized by impa.. [+]
A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2.
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diffuse cystic renal dysplasia
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CYSRD; renal dysplasia diffuse cystic; susceptibil..
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CYSRD; renal dysplasia diffuse cystic; susceptibility to cystic renal dysplasia
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A cystic kidney disease characterized by nonsyndro.. [+]
A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in the BICC1 gene on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder.
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1 articles
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hereditary mixed polyposis syndrome 1
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colorectal adenoma and carcinoma 1; CRAC1; chromos..
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CRAC1; colorectal adenoma and carcinoma 1; chromosome 15q13-q14 duplication syndrome, 40-KB; HMPS1
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A hereditary mixed polyposis syndrome that has_mat.. [+]
A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous duplication of a region on chromosome 15q15.3-q22.1.
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Ayme-Gripp syndrome
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cataracts, congenital, with sensorineural deafness..
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cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation; AYGRP
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A syndrome characterized by congenital cataracts, .. [+]
A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2.
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isolated cryptophthalmia
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CRYPTOP; unilateral or bilateral isolated cryptoph..
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CRYPTOP; unilateral or bilateral isolated cryptophthalmos
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A cryptophthalmia characterized by absence of the .. [+]
A cryptophthalmia characterized by absence of the eyelids with skin covering the eye and often an underlying malformed eye.
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Jacobsen Syndrome
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chromosome 11q deletion syndrome; Jacobsen distal ..
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chromosome 11q deletion syndrome; Jacobsen distal 11q deletion syndrome; partial 11q monosomy syndrome
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A chromosomal deletion syndrome that is characteri.. [+]
A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q.
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pancreatic hypoplasia-diabetes-congenital heart disease syndrome
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congenital pancreatic hypoplasia with diabetes mel..
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congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease; congenital heart defects and other congenital anomalies; HDCA; PACHD; pancreatic agenesis and congenital heart defects; Yorifuji-Okuno syndrome
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A syndrome characterized by partial pancreatic age.. [+]
A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has_material_basis_in heterozygous mutation in GATA6 on chromosome 18q11.2.
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1 articles
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X-linked deafness 3
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congenital sensorineural X-linked deafness 4; DFN4..
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congenital sensorineural X-linked deafness 4; DFN4; DFNX3
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An X-linked nonsyndromic deafness characterized by.. [+]
An X-linked nonsyndromic deafness characterized by congenital, bilateral, profound and sensorineural hearing loss in males and bilateral, mild to moderate high frequency sensorineural hearing impairment with later onset in heterozygous females that has_material_basis_in mutation in a region on chromosome Xp21.2.
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X-linked deafness 2
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conductive deafness with stapes fixation; conducti..
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conductive deafness with stapes fixation; conductive deafness 3 with stapes fixation; DFN3; DFNX2; Nance deafness; X-linked deafness type 2; X-linked mixed conductive and neurosensory deafness; X-linked mixed conductive and neurosensory hearing loss; X-linked mixed conductive and sensorineural deafness; X-linked mixed conductive and sensorineural hearing loss; X-linked stapes gusher syndrome; mixed deafness with perilymphatic gusher; X-linked sensorineural deafness
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An X-linked nonsyndromic deafness characterized by.. [+]
An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1.
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46,XX sex reversal 2
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chromosome 17q24 dupication syndrome; SRXX2
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A 46,XX sex reversal that has_material_basis_in he.. [+]
A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24.
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X-linked cardiac valvular dysplasia
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CVD1; Dystrophie valvulaire associee a FLNA; EDS 5..
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CVD1; Dystrophie valvulaire associee a FLNA; EDS 5; Ehlers-Danlos syndrome, type 5; Filamin A-related X-linked myxomatous valvular dysplasia; FLNA-related valvular dystrophy; FLNA-related X-linked myxomatous valvular dysplasia; XMVD
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A heart valve disease characterized by multivalvul.. [+]
A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28.
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X-linked properdin deficiency
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complement factor properdin deficiency; CFPD
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A complement deficiency characterized by decreased.. [+]
A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23.
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46,XY sex reversal 4
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chromosome 9p24.3 deletion syndrome; 46,XY gonadal..
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chromosome 9p24.3 deletion syndrome; 46,XY gonadal dysgenesis, partial or complete, with 9p24.3 deletion; SRXY4
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A 46 XY sex reversal characterized by an XY karyot.. [+]
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p.
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46,XY sex reversal 10
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chromosome 17q24 deletion syndrome; SRXY10
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A 46 XY sex reversal characterized by an XY karyot.. [+]
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous deletion of a region upstream of the SOX9 gene on chromosome 17q24.
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syndromic microphthalmia 14
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colobomatous microphthalmia-rhizomelic dysplasia s..
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colobomatous microphthalmia-rhizomelic dysplasia syndrome; MCOPS14; MCSKS; microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia; microphthalmia/coloboma and skeletal dysplasia syndrome
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A syndromic microphthalmia characterized by microp.. [+]
A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3.
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syndromic microphthalmia 9
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clinical anophthalmia mild facial dysmorphism lung..
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clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations; anophthalmia-pulmonary hypoplasia syndrome; anophthalmia/microphthalmia and pulmonary hypoplasia; pulmonary agenesis microphthalmi and diaphragmatic defect; spear syndrome; Matthew-Wood syndrome
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A syndromic microphthalmia characterized by bilate.. [+]
A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1.
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syndromic microphthalmia 2
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cataract-microphthalmia-radiculomegaly-cardiac sep..
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cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome; MAA2; MCOPS2; oculofaciocardiodental syndrome; OFCD syndrome; syndromic microphthalmia type 2; microphthalmia cataracts radiculomegaly and septal heart defects; ANOP2
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A syndromic microphthalmia characterized by dental.. [+]
A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in the BCOR gene on chromosome Xp11.4.
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1 articles
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14 matches
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syndromic microphthalmia 13
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colobomatous microphthalmia with microcephaly, sho..
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colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation; MCOPS13; X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome; Maine microphthalmos
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A syndromic microphthalmia characterized by colobo.. [+]
A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28.
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methylmalonic acidemia and homocysteinemia cblX type
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combined defect in adenosylcobalamin and methylcob..
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combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX; mental retardation, X-linked 3; methylmalonic aciduria with homocystinuria, type cblX
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A methylmalonic acidemia characterized by onset in.. [+]
A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chromosome Xq28.
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syndactyly type 1
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chromosome 2q35 duplication syndrome; SDTY1; synda..
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chromosome 2q35 duplication syndrome; SDTY1; syndactyly, type 1, with or without craniosynostosis
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A syndactyly characterized by complete or partial .. [+]
A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36.
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Abruzzo-Erickson syndrome
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CHARGE-like syndrome, X-linked; cleft palate-colob..
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CHARGE-like syndrome, X-linked; cleft palate-coloboma-deafness syndrome
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A syndrome characterized by cleft palate, coloboma.. [+]
A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1.
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X-linked spinocerebellar ataxia 2
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cerebellar ataxia with extrapyramidal involvement ..
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cerebellar ataxia with extrapyramidal involvement early-onset; SCAX2
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An X-linked cerebellar ataxia characterized by inf.. [+]
An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance.
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primary ciliary dyskinesia 36
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CILD36; X-linked primary ciliary dyskinesia 36
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A primary ciliary dyskinesia characterized by abse.. [+]
A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in the PIH1D3 gene on chromosome Xq22.3.
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primary ciliary dyskinesia 44
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CILD44; primary ciliary dyskinesia 44 without situ..
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CILD44; primary ciliary dyskinesia 44 without situs inversus
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A primary ciliary dyskinesia characterized by recu.. [+]
A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the NEK10 gene on chromosome 3p24.1.
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primary ciliary dyskinesia 38
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CILD38; primary ciliary dyskinesia 38 with or with..
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CILD38; primary ciliary dyskinesia 38 with or without situs inversus
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A primary ciliary dyskinesia characterized by sign.. [+]
A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP300 gene on chromosome 11q22.1.
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primary ciliary dyskinesia 40
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CILD40; primary ciliary dyskinesia 40 with or with..
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CILD40; primary ciliary dyskinesia 40 with or without situs inversus
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A primary ciliary dyskinesia characterized by a su.. [+]
A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12.
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primary ciliary dyskinesia 39
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CILD39; primary ciliary dyskinesia 39 with or with..
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CILD39; primary ciliary dyskinesia 39 with or without situs inversus
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A primary ciliary dyskinesia characterized by cili.. [+]
A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5.
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primary ciliary dyskinesia 42
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CILD42; primary ciliary dyskinesia 42 without situ..
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CILD42; primary ciliary dyskinesia 42 without situs inversus
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A primary ciliary dyskinesia characterized by seve.. [+]
A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the MCIDAS gene on chromosome 5q11.2.
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primary ciliary dyskinesia 43
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CILD43; primary ciliary dyskinesia 43 with or with..
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CILD43; primary ciliary dyskinesia 43 with or without situs inversus
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A primary ciliary dyskinesia characterized by redu.. [+]
A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1.
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primary ciliary dyskinesia 45
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CILD45; primary ciliary dyskinesia 45 without situ..
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CILD45; primary ciliary dyskinesia 45 without situs inversus
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A primary ciliary dyskinesia characterized by abse.. [+]
A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2.
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primary ciliary dyskinesia 41
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CILD41
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A primary ciliary dyskinesia characterized by hype.. [+]
A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12.
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AMME complex
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chromosome Xq22.3 telomeric deletion syndrome; Alp..
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chromosome Xq22.3 telomeric deletion syndrome; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME syndrome; ATS-MR
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A syndrome characterized by Alport syndrome, menta.. [+]
A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3.
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X-linked congenital bilateral absence of vas deferens
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CBAVDX
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A congenital bilateral absence of vas deferens tha.. [+]
A congenital bilateral absence of vas deferens that has_material_basis_in mutation in the ADGRG2 gene on chromosome Xp22.13.
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immunodeficiency 16
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combined immunodeficiency with impaired immunity t..
[+]
combined immunodeficiency with impaired immunity to human herpes virus 8; combined immunodeficiency with impaired immunity to HHV-8; combined immunodeficiency with childhood-onset Kaposi sarcoma; combined immunodeficiency due to OX40 deficiency; IMD16; OX40 deficiency
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A combined T cell and B cell immunodeficiency char.. [+]
A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF4 gene on chromosome 1p36.33.
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immunodeficiency 20
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CD16 deficiency; autosomal recessive primary immun..
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CD16 deficiency; autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity; IMD20; autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity
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A primary immunodeficiency disease characterized b.. [+]
A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in the FCGR3A gene on chromosome 1q23.3.
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immunodeficiency 48
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combined immunodeficiency due to ZAP70 deficiency; ..
[+]
combined immunodeficiency due to ZAP70 deficiency; IMD48; zeta-associated-protein 70 deficiency
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A T cell deficiency characterized by a selective T.. [+]
A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in the ZAP70 gene on chromosome 2q11.2.
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immunodeficiency 31C
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CANDF7; autoimmune enteropathy and endocrinopathy-..
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CANDF7; autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome; autosomal dominant chronic mucocutaneous familial candidiasis; autosomal dominant immunodeficiency 31C; familial candidiasis 7; IMD31C
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A primary immunodeficiency disease characterized b.. [+]
A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in the STAT1 gene on chromosome 2q32.2.
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immunodeficiency 21
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combined immunodeficiency with susceptibility to m..
[+]
combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections; DCML; dendritic cell, monocyte, B and NK lymphoid deficiency; GATA2 deficiency; IMD21; monocyte-B-natural killer-dendritic cell deficiency syndrome; monocytopenia and mycobacterial infection syndrome; monocytopenia with susceptibility to infections; MonoMAC
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A primary immunodeficiency disease characterized b.. [+]
A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3.
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immunodeficiency 46
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combined immunodeficiency due to TFRC deficiency; ..
[+]
combined immunodeficiency due to TFRC deficiency; CID due to TFRC deficiency; IMD46; TFRC-related combined immunodeficiency
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A combined T cell and B cell immunodeficiency char.. [+]
A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in the TFRC gene on chromosome 3q29.
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