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Disease	Synonyms	Description
X-linked spinocerebellar ataxia 2	SCAX2; cerebellar ataxia with extrapyramidal invol.. [+] SCAX2; cerebellar ataxia with extrapyramidal involvement early-onset [-]	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. [-]
X-linked spinocerebellar ataxia 3	SCAX3; X-linked ataxia-deafness syndrome; X-linked.. [+] SCAX3; X-linked ataxia-deafness syndrome; X-linked spinocerebellar ataxia type 3 [-]	An X-linked cerebellar ataxia characterized by ons..[+] An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance. [-]
X-linked spinocerebellar ataxia 4	SCAX4; X-linked ataxia-dementia syndrome; X-linked.. [+] SCAX4; X-linked ataxia-dementia syndrome; X-linked spinocerebellar ataxia type 4 [-]	An X-linked cerebellar ataxia characterized by ata..[+] An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance. [-]
X-linked spinocerebellar ataxia 5	SCAX5; Spinocerebellar Ataxia, X-Linked 5; X-linke.. [+] Spinocerebellar Ataxia, X-Linked 5; SCAX5; X-linked non progressive cerebellar ataxia [-]	An X-linked cerebellar ataxia characterized by neo..[+] An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1. [-]
autosomal recessive thrombophilia due to protein S deficiency	severe hereditary thrombophilia due to congenital .. [+] severe hereditary thrombophilia due to congenital protein S deficiency; autosomal recessive thrombophilia due to congenital protein S deficiency; THPH6 [-]	A protein S deficiency characterized by thrombosis..[+] A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the PROS1 gene on chromosome 3q11.1. [-]
immunodeficiency 14	senescent T-cells-lymphadenopathy-immunodeficiency.. [+] senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation; activated PI3K-delta syndrome; APDS; IMD14; PASLI disease [-]	A combined T cell and B cell immunodeficiency char..[+] A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22. [-]
immunodeficiency 22	SCID due to LCK deficiency; severe combined immuno.. [+] SCID due to LCK deficiency; severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency; severe combined immunodeficiency due to LCK deficiency; SCID due to lymphocyte-specific protein tyrosine kinase deficiency; IMD22 [-]	A severe combined immunodeficiency characterized b..[+] A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2. [-]
immunodeficiency 24	severe combined immunodeficiency due to CTPS1 defi.. [+] severe combined immunodeficiency due to CTPS1 deficiency; SCID due to CTPS1 deficiency; IMD24 [-]	A severe combined immunodeficiency characterized b..[+] A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in the CTPS1 gene on chromosome 1p34.2. [-]
immunodeficiency 31B	susceptibility to viral and mycobacterial infectio.. [+] susceptibility to viral and mycobacterial infections due to STAT1 deficiency; autosomal recessive immunodeficiency 31B, mycobacterial and viral infections; autosomal recessive STAT1 deficiency; IMD31B; predisposition to severe viral infection due to STAT1 deficiency [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in the STAT1 gene on chromosome 2q32.2. [-]
immunodeficiency 11A	severe combined immunodeficiency due to CARD11 def.. [+] severe combined immunodeficiency due to CARD11 deficiency; SCID due to CARD11 deficiency; CARD11 deficiency; IMD11A [-]	A severe combined immunodeficiency characterized b..[+] A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in the CARD11 gene on chromosome 7p22.2. [-]
immunodeficiency 26	severe combined immunodeficiency due to DNA-PKcs d.. [+] severe combined immunodeficiency due to DNA-PKcs deficiency; SCID due to DNA-PKcs deficiency; IMD26; immunodeficiency 26, with or without neurologic abnormalities [-]	A severe combined immunodeficiency characterized b..[+] A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in the PRKDC gene on chromosome 8q11.21. [-]
immunodeficiency 10	STIM1 deficiency; CID due to STIM1 deficiency; com.. [+] STIM1 deficiency; CID due to STIM1 deficiency; combined immunodeficiency due to STIM1 deficiency; IMD10; immune dysfunction with T-cell inactivation due to calcium entry defect 2 [-]	A T cell and NK cell immunodeficiency characterize..[+] A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous mutation in the STIM1 gene on chromosome 11p15.4. [-]
immunodeficiency 19	severe combined immunodeficiency, T cell-negative,.. [+] severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive; SCID T cell-negative, B cell-positive, NK cell-positive; IMD19; CD3-delta deficiency [-]	A severe combined immunodeficiency characterized b..[+] A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3. [-]
immunodeficiency 17	SCID-like immunodeficiency, T cell-partial, B cell.. [+] SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive; CD3-gamma deficiency; IMD17; immunodeficiency 17, CD3 gamma deficient [-]	A T cell deficiency characterized by partial T-cel..[+] A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3. [-]
immunodeficiency 49	severe combined immunodeficiency, T-cell negative,.. [+] severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities; SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities; IMD49 [-]	A T cell deficiency characterized by T cell lympho..[+] A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2. [-]
immunodeficiency 52	severe combined immunodeficiency due to LAT defici.. [+] severe combined immunodeficiency due to LAT deficiency; IMD52 [-]	A T cell deficiency characterized by onset of seve..[+] A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2. [-]
immunodeficiency 58	severe combined immunodeficiency due to CARMIL2 de.. [+] severe combined immunodeficiency due to CARMIL2 deficiency; IMD58 [-]	A combined T cell and B cell immunodeficiency char..[+] A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in the CARMIL2 gene on chromosome 16q22.1. [-]
immunodeficiency 35	susceptibility to infection due to TYK2 deficiency.. [+] susceptibility to infection due to TYK2 deficiency; autosomal recessiv HIES with atypical mycobacteriosis; autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis; IMD35; TYK2 deficiency; tyrosine kinase 2 deficiency [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in the TYK2 gene on chromosome 19p13.2. [-]
deafness, dystonia, and cerebral hypomyelination	severe motor and intellectual disabilities-sensori.. [+] severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome; severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome [-]	A syndrome characterized by motor and intellectual..[+] A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that has_material_basis_in heterozygous mutation in the BCAP31 gene on chromosome Xq28. [-]
X-linked severe congenital neutropenia	SCNX; XLN	A severe congenital neutropenia that has_material_..[+] A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23. [-]
X-linked spondyloepimetaphyseal dysplasia	SEMDX; SEMD X-linked	A spondyloepimetaphyseal dysplasia that has_materi..[+] A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28. [-]
Filippi syndrome	Scott craniodigital syndrome with mental retardati.. [+] Scott craniodigital syndrome with mental retardation; type 1 syndactyly-microcephaly-intellectual disability syndrome [-]	A syndrome characterized by short stature, microce..[+] A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the CKAP2L gene on chromosome 2q14.1. [-]
X-linked spermatogenic failure 3	SPGFX3	A spermatogenic failure characterized by asthenote..[+] A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the flagella that has_material_basis_in hemizygous mutation in the CFAP47 gene on chromosome Xp21.1. [-]
axial spondylometaphyseal dysplasia	SMDAX; SMD axial	A spondylometaphyseal dysplasia characterized by p..[+] A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP410 gene on chromosome 21q22.3. [-]
hereditary spastic paraplegia 80	SPG80; spastic paraplegia 80 autosomal dominant	A hereditary spastic paraplegia characterized by j..[+] A hereditary spastic paraplegia characterized by juvenile-onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs that has_material_basis_in heterozygous mutation in the UBAP1 gene on chromosome 9p13.3. [-]
hereditary spastic paraplegia 86	SPG86; spastic paraplegia 86 autosomal recessive	A hereditary spastic paraplegia characterized by e..[+] A hereditary spastic paraplegia characterized by early childhood onset of global developmental delay and early-onset progressive spasticity mainly affecting the lower limbs but also affecting the upper lmbs that has_material_basis_in homozygous or compound heterozygous mutation in the ABHD16A gene on chromosome 6p21.33. [-]
hereditary spastic paraplegia 82	SPG82; spastic paraplegia 82 autosomal recessive	A hereditary spastic paraplegia characterized by o..[+] A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3. [-]
hereditary spastic paraplegia 79B	SPG79; SPG79B; spastic paraplegia 79 autosomal rec.. [+] SPG79B; SPG79; spastic paraplegia 79 autosomal recessive; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome; autosomal recessive spastic paraplegia 79B [-]	A hereditary spastic paraplegia characterized by o..[+] A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13. [-]
hereditary spastic paraplegia 85	SPG85; spastic paraplegia 85 autosomal recessive	A hereditary spastic paraplegia characterized by o..[+] A hereditary spastic paraplegia characterized by onset of motor symptoms (e.g. spasticity and hyperreflexia of the lower limbs) in the first few years of life that has_material_basis_in homozygous or compound heterozygous mutation in the RNF170 gene on chromosome 8p11.21. [-]
hereditary spastic paraplegia 83	SPG83; spastic paraplegia 83 autosomal recessive	A hereditary spastic paraplegia characterized by p..[+] A hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that has_material_basis_in homozygous or compound heterozygous mutation in the HPDL gene on chromosome 1p34.1. [-]
hereditary spastic paraplegia 84	SPG84; spastic paraplegia 84 autosomal recessive	A hereditary spastic paraplegia characterized by o..[+] A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the PI4KA gene on chromosome 22q11.21. [-]
hereditary spastic paraplegia 78	SPG78; spastic paraplegia 78 autosomal recessive	A hereditary spastic paraplegia characterized pred..[+] A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13. [-]
hereditary spastic paraplegia 81	spastic paraplegia 81 autosomal recessive; SPG81; .. [+] SPG81; spastic paraplegia 81 autosomal recessive; autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; autosomal recessive complex SPG due to Kennedy pathway dysfunction [-]	A hereditary spastic paraplegia characterized by o..[+] A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the SELENOI gene on chromosome 2p23.3. [-]
KINSSHIP syndrome	Steichen-Gersdorf type mesomelic dysplasia; AFF3-r.. [+] Steichen-Gersdorf type mesomelic dysplasia; AFF3-related mesomelic dysplasia; KINS [-]	A syndrome characterized by developmental delay, i..[+] A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in the AFF3 gene on chromosome 2q11.2. [-]

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