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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
Warburg micro syndrome 1
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Micro Syndrome 1; WARBM1
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A Warburg micro syndrome that has_material_basis_i.. [+]
A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21.
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Warburg micro syndrome 2
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Micro Syndrome 2; WARBM2
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A Warburg micro syndrome that has_material_basis_i.. [+]
A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41.
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Warburg micro syndrome 3
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Micro Syndrome 3; WARBM3
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A Warburg micro syndrome that has_material_basis_i.. [+]
A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB18 gene on chromosome 10p12.
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Warburg micro syndrome 4
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Micro Syndrome 4; WARBM4
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A Warburg micro syndrome that has_material_basis_i.. [+]
A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13.
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neurodegeneration with brain iron accumulation 4
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MPAN; Mitochondrial Protein-Associated Neurodegene..
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MPAN; Mitochondrial Protein-Associated Neurodegeneration; NBIA due to C19orf12 mutation; NBIA4; Neurodegeneration with brain iron accumulation due to C19orf12 mutation; Neurodegeneration with brain iron accumulation type 4
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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 C19orf12 gene on chromosome 19q12.
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posterior polymorphous corneal dystrophy 1
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Maumenee Corneal Dystrophy; Ched1; Corneal Endothe..
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Maumenee Corneal Dystrophy; Ched1; Corneal Endothelial Dystrophy 1, Autosomal Dominant; Ppcd1
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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.
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congenital stationary night blindness 1A
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myopia-night blindness; complete CSNB X-linked; co..
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myopia-night blindness; complete CSNB X-linked; congenital stationary night blindness 1A X-linked; congenital stationary night blindness with myopia; CSNB1A; hemeralopia-myopia; NBMI
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A congenital stationary night blindness that has_m.. [+]
A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4.
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adult hypophosphatasia
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mild hypophosphatasia
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A hypophosphatasia that has_material_basis_in a he.. [+]
A hypophosphatasia that has_material_basis_in a heterozygous mutation of ALPL on chromosome 1p36.12.
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autosomal recessive osteopetrosis 3
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marble brain disease; autosomal recessive osteopet..
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marble brain disease; autosomal recessive osteopetrosis 3 with renal tubular acidosis; carbonic anhydrase II deficiency; Guibaud-Vainsel syndrome; OPTB3; osteopetrosis with renal tubular acidosis
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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.
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autosomal recessive osteopetrosis 2
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mild autosomal recessive form osteopetrosis; OPTB2..
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mild autosomal recessive form osteopetrosis; OPTB2; osteoclast-poor osteopetrosis
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An osteopetrosis characterized by autosomal recess.. [+]
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14.
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brachydactyly type A2
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Mohr-Wriedt type brachydactyly; BDA2; brachymesoph..
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Mohr-Wriedt type brachydactyly; BDA2; brachymesophalangy II
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A brachydactyly characterized by autosomal dominan.. [+]
A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12.
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hypermethioninemia due to adenosine kinase deficiency
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MRT8; ADK hypermethioninemia; autosomal recessive ..
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MRT8; ADK hypermethioninemia; autosomal recessive mental retardation 8; hypermethioninemia encephalopathy due to adenosine kinase deficiency; hypermethioninemia encephalopathy due to ADK deficiency
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A hypermethioninemia characterized by autosomal re.. [+]
A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has material_basis_in homozygous mutation in the ADK gene on chromosome 10q22.
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glycogen storage disease IXd
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muscle phosphorylase kinase deficiency; glycogen s..
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muscle phosphorylase kinase deficiency; glycogen storage disease due to muscle phosphorylase kinase deficiency; glycogen storage disease type 9D; glycogen storage disease type 9E; glycogen storage disease type IXd; glycogen storage disease type IXe; glycogenosis due to muscle phosphorylase kinase deficiency; glycogenosis type 9D; glycogenosis type 9E; glycogenosis type IXd; glycogenosis type IXe; GSD due to muscle phosphorylase kinase deficiency; GSD IXd; GSD type 9D; GSD type 9E; GSD type IXd; GSD type IXe; GSD9D; X-linked muscke glycogenosis
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A glycogen storage disease IX characterized by X-l.. [+]
A glycogen storage disease IX characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has material_basis_in mutation in the PHKA1 gene on chromosome Xq13.
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hyperphosphatemic familial tumoral calcinosis
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morbus Teutschlaender; cortical hyperostosis with ..
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morbus Teutschlaender; 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; PHPTC; primary hyperphosphatemic tumoral calcinosis; tumoral calcinosis with hyperphosphatemia
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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.
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postural orthostatic tachycardia syndrome
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mitral valve prolapse syndrome; familial orthostat..
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mitral valve prolapse syndrome; familial orthostatic tachycardia due to norepinephrine transporter deficiency; irritable heart; neurocirculatory asthenia; orhtostatic intolerance; orthostatic intolerance due to NET deficiency; postural tachycardia syndrome due to NET deficiency; soldiers heart
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A heart conduction disease characterized by orthos.. [+]
A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2.
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globozoospermia
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male infertility due to round-headed spermatozoa; ..
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male infertility due to round-headed spermatozoa; male infertility due to globozoospermia
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A male infertility characterized by round-headed s.. [+]
A male infertility characterized by round-headed spermatozoa lacking an acrosome.
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familial hemiplegic migraine 2
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MHP2; Familial hemiplegic migraine-2; FHM2
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A familial hemiplegic migraine that has_material_b.. [+]
A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in ATP1A2 on 1q23.2.
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distal muscular dystrophy 3
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MPD3; distal myopathy 3; distal myopathy type 3
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A distal muscular dystrophy that has significant l.. [+]
A distal muscular dystrophy that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22.
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distal muscular dystrophy 4
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MPD4; distal ABD-filaminopathy; distal myopathy 4; ..
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MPD4; distal ABD-filaminopathy; distal myopathy 4; distal myopathy with posterior leg and anterior hand involvement
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A distal muscular dystrophy that has_material_basi.. [+]
A distal muscular dystrophy that has_material_basis_in heterozygous mutation in FLNC on 7q32.
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congenital muscular dystrophy-dystroglycanopathy type A11
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MDDGA11; congenital muscular dystrophy-dystroglyca..
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MDDGA11; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11; Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3.
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congenital muscular dystrophy-dystroglycanopathy A7
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MDDGA7; congenital muscular dystrophy-dystroglycan..
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MDDGA7; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7; Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1.
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congenital muscular dystrophy-dystroglycanopathy type A2
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MDDGA2; congenital muscular dystrophy-dystroglycan..
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MDDGA2; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2; Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3.
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hyaline body myopathy
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myosin storage myopathy
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A congenital myopathy characterized by accumulatio.. [+]
A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2.
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familial progressive hyperpigmentation with or without hypopigmentation
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MUH; melanosis universalis hereditaria; FPHH
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A skin disease characterized by progressive, diffu.. [+]
A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in the KITLG gene on chromosome 12q21.32.
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inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1
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multisystem proteinopathy 1; MSP1; IBMPFD1
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An inclusion body myopathy with Paget disease of b.. [+]
An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3.
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progressive myoclonus epilepsy 7
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Myoclonus epilepsy and ataxia due to potassium cha..
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Myoclonus epilepsy and ataxia due to potassium channel mutation; MEAK; EPM7; PME type 7; Progressive myoclonic epilepsy due to KV3.1 deficiency; Progressive myoclonus epilepsy type 7
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A progressive myoclonus epilepsy characterized by .. [+]
A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1.
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dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
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Malouf syndrome; cardiogenital syndrome; cardiomyo..
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Malouf syndrome; cardiogenital syndrome; cardiomyopathy eith primary testicular failure; congestive cardiomyopathy with hypergonadotropic hypogonadism; dilated cardiomyopathy with hypergonadotropic hypogonadism; dilated cardiomyopathy with premature ovarian failure; genital anomaly with cardiomyopathy; Najjar syndrome
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A syndrome characterized by dilated cardiomyopathy.. [+]
A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.
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syndromic microphthalmia 1
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MCOPS1; Lenz dysplasia; Lenz microphthalmia; Lenz ..
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MCOPS1; Lenz dysplasia; Lenz microphthalmia; Lenz type microphthalmia; syndromic microphthalmia 4
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A syndromic microphthalmia characterized by unilat.. [+]
A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28.
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syndromic microphthalmia 14
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microphthalmia/coloboma and skeletal dysplasia syn..
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microphthalmia/coloboma and skeletal dysplasia syndrome; microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia; MCSKS; MCOPS14; colobomatous microphthalmia-rhizomelic 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 5
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MCOPS5; syndromic microphthalmia type 5; syndromic..
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MCOPS5; syndromic microphthalmia type 5; syndromic microphthalmia/anophthalmia due to OTX2 mutation
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A syndromic microphthalmia characterized by unilat.. [+]
A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3.
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syndromic microphthalmia 2
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microphthalmia cataracts radiculomegaly and septal..
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microphthalmia cataracts radiculomegaly and septal heart defects; MCOPS2; MAA2; ANOP2; cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome; oculofaciocardiodental syndrome; OFCD syndrome; syndromic microphthalmia type 2
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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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immunodeficiency 31A
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MSMD due to partial STAT1 deficiency; MSMD due to ..
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MSMD due to partial STAT1 deficiency; MSMD due to partial signal transducer and activator of transcription 1 deficiency; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency; Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency; autosomal dominant immunodeficiency 31A, mycobacteriosis; IMD31A
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A primary immunodeficiency disease characterized b.. [+]
A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in the STAT1 gene on chromosome 2q32.2.
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immunodeficiency 21
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MonoMAC; monocytopenia with susceptibility to infe..
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MonoMAC; monocytopenia with susceptibility to infections; monocytopenia and mycobacterial infection syndrome; monocyte-B-natural killer-dendritic cell deficiency syndrome; combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections; DCML; dendritic cell, monocyte, B and NK lymphoid deficiency; GATA2 deficiency; IMD21
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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 50
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MSN-related combined immunodeficiency; CID due to ..
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MSN-related combined immunodeficiency; CID due to Moesin deficiency; combined immunodeficiency due to Moesin deficiency; IMD50; immunodeficiency 50 X linked recessive; X-linked Moesin-associated immunodeficiency
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A combined immunodeficiency characterized by profo.. [+]
A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12.
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congenital megabladder
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MGBL
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A bladder disease characterized by a massively dil.. [+]
A bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that has_material_basis_in heterozygous mutation in the MYOCD gene on chromosome 17p12.
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non-syndromic X-linked intellectual disability 104
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MRX104; X-linked mental retardation 104
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A non-syndromic X-linked intellectual disability c.. [+]
A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the FRMPD4 gene on chromosome Xp22.2.
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non-syndromic X-linked intellectual disability ARX-related
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MRXARX; ARX-related intellectual disability; X-lin..
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MRXARX; ARX-related intellectual disability; X-linked mental retardation 29; X-linked mental retardation 29 and others; X-linked mental retardation 32; X-linked mental retardation 33; X-linked mental retardation 38; X-linked mental retardation 43; X-linked mental retardation 52; X-linked mental retardation 54; X-linked mental retardation 76; X-linked mental retardation 87; X-linked mental retardation with or without seizures ARX-related
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A non-syndromic X-linked intellectual disability c.. [+]
A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3.
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non-syndromic X-linked intellectual disability 20
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MRX20; X-linked mental retardation 20
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A non-syndromic X-linked intellectual disability t.. [+]
A non-syndromic X-linked intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11-q21.
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non-syndromic X-linked intellectual disability 45
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MRX45; X-linked mental retardation 45
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A non-syndromic X-linked intellectual disability c.. [+]
A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability during childhood, large and simple ears, relatively large hands, and normal behavior that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21.
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non-syndromic X-linked intellectual disability 84
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MRX84; X-linked mental retardation 84
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A non-syndromic X-linked intellectual disability c.. [+]
A non-syndromic X-linked intellectual disability characterized by nonspecific intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3-q22.3.
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non-syndromic X-linked intellectual disability 81
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MRX81; X-linked mental retardation 81
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A non-syndromic X-linked intellectual disability c.. [+]
A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.2-q12.
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non-syndromic X-linked intellectual disability 9
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MRX44; MRX9; X-linked mental retardation 44; X-lin..
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MRX9; MRX44; X-linked mental retardation 44; X-linked mental retardation 9
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A non-syndromic X-linked intellectual disability c.. [+]
A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that has_material_basis_in hemizygous mutation in the FTSJ1 gene on chromosome Xp11.23.
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non-syndromic X-linked intellectual disability 100
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MRX100; X-linked mental retardation 100
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A non-syndromic X-linked intellectual disability c.. [+]
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in the KIF4A gene on chromosome Xq13.1.
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non-syndromic X-linked intellectual disability 98
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MRX98; X-linked mental retardation 98
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A non-syndromic X-linked intellectual disability c.. [+]
A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3.
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non-syndromic X-linked intellectual disability 30
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MRX30; MRX47; X-linked mental retardation 30; X-li..
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MRX47; MRX30; X-linked mental retardation 30; X-linked mental retardation 30/47; X-linked mental retardation 47
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A non-syndromic X-linked intellectual disability c.. [+]
A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disablity that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23.
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non-syndromic X-linked intellectual disability 88
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MRX88; X-linked mental retardation 88
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A non-syndromic X-linked intellectual disability c.. [+]
A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in mutation in a region on chromosome Xq24.
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non-syndromic X-linked intellectual disability 41
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MRX41; MRX48; X-linked mental retardation 41; X-li..
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MRX48; MRX41; X-linked mental retardation 41; X-linked mental retardation 48
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A non-syndromic X-linked intellectual disability c.. [+]
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GDI1 gene on chromosome Xq28.
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nuclear type mitochondrial complex I deficiency
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MC1DN
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A mitochondrial complex I deficiency that has_mate.. [+]
A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the nuclear genome.
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nuclear type mitochondrial complex I deficiency 25
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MC1DN25
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A nuclear type mitochondrial complex I deficiency .. [+]
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous and compound heterozygous mutation in the NDUFB3 gene on chromosome 2q33.1.
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nuclear type mitochondrial complex I deficiency 20
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mitochondrial complex 1 deficiency due to ACAD9 de..
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mitochondrial complex 1 deficiency due to ACAD9 deficiency; MC1DN20; ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency
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A nuclear type mitochondrial complex I deficiency .. [+]
A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3.
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