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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
blepharophimosis-impaired intellectual development syndrome
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SMARCA2-related blepharophimosis-intellectual disa..
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SMARCA2-related blepharophimosis-intellectual disability syndrome
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A syndrome that is characterized by a distinct fac.. [+]
A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24.
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thyroid gland spindle epithelial tumor with thymus-like elements
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Spindle Epithelial Tumor with Thymus-Like Elements..
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Spindle Epithelial Tumor with Thymus-Like Elements; SETTLE; Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation; Thyroid Gland Spindle Epithelial Tumor with Thymus-Like Elements
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A thyroid gland carcinoma that is characterized by.. [+]
A thyroid gland carcinoma that is characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells.
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progressive pseudorheumatoid arthropathy of childhood
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spondyloepiphyseal dysplasia tarda-progressive art..
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spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
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A osteochondrodysplasia characterized by autosomal.. [+]
A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22.
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Cenani-Lenz syndactyly syndrome
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syndactyly type 7
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A dysostosis characterized by syndactyly, malforma.. [+]
A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11.
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brachyolmia-amelogenesis imperfecta syndrome
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STHAG6; selective tooth agenesis 5; dental anomali..
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selective tooth agenesis 5; STHAG6; dental anomalies and short stature; DASS; platyspondyly with amelogenesis imperfecta
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A syndrome characterized by skeletal dysplasia (br.. [+]
A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13.
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Donnai-Barrow syndrome
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syndrome of ocular and facial anomalies, telecanth..
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syndrome of ocular and facial anomalies, telecanthus and deafness; diaphragmatic hernia-exomphalos-hypertelorism syndrome; diaphragmatic hernia-hypertelorism-myopia-deafness syndrome; facio-oculo-acoustico-renal syndrome; Holmes-Schepens syndrome; FOAR syndrome; diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria; faciooculoacousticorenal syndrome; DBS/FOAR syndrome
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A syndrome that is characterized by facial and ocu.. [+]
A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31.
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asphyxiating thoracic dystrophy 1
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SRTD1; short-rib thoracic dysplasia 1 with or with..
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SRTD1; short-rib thoracic dysplasia 1 with or without polydactyly; ATD1
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An asphyxiating thoracic dystrophy associated with.. [+]
An asphyxiating thoracic dystrophy associated with variation in the region 15q13.
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asphyxiating thoracic dystrophy 2
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SRTD2; short-rib thoracic dysplasia 2 with or with..
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SRTD2; short-rib thoracic dysplasia 2 with or without polydactyly; ATD2
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An asphyxiating thoracic dystrophy that has_materi.. [+]
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25.
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asphyxiating thoracic dystrophy 3
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short rib-polydactyly syndrome, type I; SRPS3; SRT..
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SRPS3; short rib-polydactyly syndrome, type I; SRTD3; SRPS2B; SRPS1; short-rib thoracic dysplasia 3 with or without polydactyly; short rib-polydactyly syndrome, type IIB; Saldino-Noonan syndrome; ATD3; polydactyly with neonatal chondrodystrophy, type I; Verma-Naumoff syndrome; polydactyly with neonatal chondrodystrophy, type III
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An asphyxiating thoracic dystrophy that has_materi.. [+]
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.
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asphyxiating thoracic dystrophy 4
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SRTD4; short-rib thoracic dysplasia 4 with or with..
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SRTD4; short-rib thoracic dysplasia 4 with or without polydactyly; ATD4
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An asphyxiating thoracic dystrophy has_material_ba.. [+]
An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.
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asphyxiating thoracic dystrophy 5
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SRTD5; short-rib thoracic dysplasia 5 with or with..
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SRTD5; short-rib thoracic dysplasia 5 with or without polydactyly; ATD5
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An asphyxiating thoracic dystrophy that has_materi.. [+]
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14.
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Charcot-Marie-Tooth disease type 4K
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SURF1-related severe demyelinating Charcot-Marie-T..
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SURF1-related severe demyelinating Charcot-Marie-Tooth disease; SURF1-related CMT4; SURF1-related Charcot-Marie-Tooth disease type 4; autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K; CMT4K; autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K
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A Charcot-Marie-Tooth disease type 4 that has_mate.. [+]
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.
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cleft soft palate
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soft cleft palate; cleft velum; cleft velum palati..
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soft cleft palate; cleft velum; cleft velum palatinum
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A cleft palate that is characterized as a fissure .. [+]
A cleft palate that is characterized as a fissure type embryopathy that affects in varying degrees the soft palate.
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autosomal recessive limb-girdle muscular dystrophy type 2C
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severe childhood autosomal recessive muscular dyst..
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severe childhood autosomal recessive muscular dystrophy North African type; SCARMD; autosomal recessive Duchenne-like muscular dystrophy type 1; deficiency of sarcoglycan gamma; DMDA1; gamma-sarcoglycanopathy; LGMD2C; limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; muscular dystrophy, limb-girdle, type 2C; Maghrebian myopathy
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An autosomal recessive limb-girdle muscular dystro.. [+]
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12.
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autosomal recessive limb-girdle muscular dystrophy type 2H
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sarcotubular myopathy; limb-girdle muscular dystro..
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sarcotubular myopathy; limb-girdle muscular dystrophy due to TRIM32 deficiency; muscular dystrophy Hutterite type; LGMD2H
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An autosomal recessive limb-girdle muscular dystro.. [+]
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q.
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late-adult onset retinitis pigmentosa
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senile retinitis pigmentosa
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A retinitis pigmentosa that is characterized by on.. [+]
A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life.
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dilated cardiomyopathy 1J
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sensorineural hearing loss with dilated cardiomyop..
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sensorineural hearing loss with dilated cardiomyopathy; sensorineural deafness with dilated cardiomyopathy; autosomal dominant dilated cardiomyopathy with sensorineural hearing loss; CMD1J; neurosensory deafness with dilated cardiomyopathy; neurosensory hearing loss with dilated cardiomyopathy
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A dilated cardiomyopathy that has_material_basis_i.. [+]
A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2.
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rigid spine muscular dystrophy 1
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SEPN1-related myopathy; severe classic form multim..
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SEPN1-related myopathy; severe classic form multiminicore disease; severe classic form multicore myopathy; severe classic form minicore myopathy; classic MmD; congenital merosin-positive muscular dystrophy with early spine rigidity; desmin-related myopathy with Mallory bodies; early-onset desmin-related myopathy; Eichsfeld type congenital muscular dystrophy; MDRS1; RSS; classic multiminicore myopathy; desmin-related myopathy with Mallory body-like inclusions; RSMD1; classic multiminicore disease; rigid spine syndrome
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A congenital muscular dystrophy characterized by i.. [+]
A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36.
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hypotrichosis 2
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Spanish type hypotrichosis; Htss1; hypotrichosis s..
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Spanish type hypotrichosis; Htss1; hypotrichosis simplex of the scalp 1; Hypt2
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A hypotrichosis that has_material_basis_in a autos.. [+]
A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the CDSN gene on chromosome 6p21.33.
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neurodegeneration with brain iron accumulation 2a
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Seitelberger Disease; INAD1; Infantile Neuroaxonal..
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Seitelberger Disease; INAD1; Infantile Neuroaxonal Dystrophy 1; NBIA2a; Neurodegeneration, Pla2g6-Associated
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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 PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life.
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neurodegeneration with brain iron accumulation 5
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Static Encephalopathy Of Childhood With Neurodegen..
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Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood; SENDA; Beta-Propeller Protein-Associated Neurodegeneration; BPAN; NBIA5
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A neurodegeneration with brain iron accumulation t.. [+]
A neurodegeneration with brain iron accumulation that has_material_basis_in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23.
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hereditary spastic paraplegia 10
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SPG10; autosomal dominant spastic paraplegia 10; a..
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SPG10; autosomal dominant spastic paraplegia 10; autosomal dominant spastic paraplegia type 10
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13.
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hereditary spastic paraplegia 11
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SPG11; spastic paraplegia-intellectual disability-..
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SPG11; spastic paraplegia-intellectual disability-thin corpus callosum syndrome; autosomal recessive spastic paraplegia type 11; autosomal recessive spastic paraplegia 11; autosomal recessive spastic paraplegia complicated with thin corpus callosum; autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum; HSP-TCC; Nakamura-Osame syndrome
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21.
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hereditary spastic paraplegia 12
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SPG12; autosomal dominant spastic paraplegia 12; a..
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SPG12; autosomal dominant spastic paraplegia 12; autosomal dominant spastic paraplegia type 12
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in mutation in the RTN2 gene on chromosome 19q13.
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hereditary spastic paraplegia 13
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SPG13; autosomal dominant spastic paraplegia 13
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A hereditary spastic paraplegia that is characteri.. [+]
A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the HSPD1 gene on chromosome 2q33.
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hereditary spastic paraplegia 14
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SPG14; autosomal recessive spastic paraplegia 14; ..
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SPG14; autosomal recessive spastic paraplegia 14; autosomal recessive spastic paraplegia type 14
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 3q27-q28.
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hereditary spastic paraplegia 15
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SPG15; spastic paraplegia-retinal degeneration syn..
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SPG15; spastic paraplegia-retinal degeneration syndrome; spastic paraplegia and retinal degeneration; hereditary spastic paraparesis type 15; autosomal recessive spastic paraplegia 15; autosomal recessive spastic paraplegia type 15; Kjellin syndrome
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE26 gene on chromosome 14q24.1.
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hereditary spastic paraplegia 16
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SPG16; X-linked spastic paraplegia type 16; X-link..
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SPG16; X-linked spastic paraplegia type 16; X-linked spastic paraplegia 16
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq11.2.
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hereditary spastic paraplegia 17
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SPG17; spastic paraplegia-amyotrophy of hands and ..
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SPG17; spastic paraplegia-amyotrophy of hands and feet; spastic paraplegia with amyotrophy of hands and feet; Silver syndrome; Silver spastic paraplegia syndrome; distal hereditary motor neuropathy type 5B; autosomal dominant spastic paraplegia 17; autosomal dominant spastic paraplegia type 17; dHMN5B
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.
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hereditary spastic paraplegia 18
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SPG18; autosomal recessive spastic paraplegia 18; ..
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SPG18; autosomal recessive spastic paraplegia 18; autosomal recessive spastic paraplegia type 18; IDMDC; intellectual disability, motor dysfunction and joint contractures
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11.
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hereditary spastic paraplegia 19
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SPG19; autosomal dominant spastic paraplegia 19; a..
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SPG19; autosomal dominant spastic paraplegia 19; autosomal dominant spastic paraplegia type 19
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 9q.
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hereditary spastic paraplegia 2
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spastic paraplegia type 2; SPG2; X-linked spastic ..
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SPG2; spastic paraplegia type 2; X-linked spastic paraplegia 2
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2.
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hereditary spastic paraplegia 23
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SPG23; spastic paraplegia with pigmentary abnormal..
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SPG23; spastic paraplegia with pigmentary abnormalities; Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome; spastic paraplegia 23; Lison syndrome
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32.
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hereditary spastic paraplegia 24
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SPG24; autosomal recessive spastic paraplegia 24; ..
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SPG24; autosomal recessive spastic paraplegia 24; autosomal recessive spastic paraplegia type 24
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 13q14.
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hereditary spastic paraplegia 25
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SPG25; autosomal recessive spastic paraplegia 25; ..
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SPG25; autosomal recessive spastic paraplegia 25; autosomal recessive spastic paraplegia type 25
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 6q23-q24.1.
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hereditary spastic paraplegia 26
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SPG26; autosomal recessive spastic paraplegia 26; ..
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SPG26; autosomal recessive spastic paraplegia 26; autosomal recessive spastic paraplegia type 26; GM2 synthase deficiency
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13.
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hereditary spastic paraplegia 27
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SPG27; autosomal recessive spastic paraplegia 27; ..
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SPG27; autosomal recessive spastic paraplegia 27; autosomal recessive spastic paraplegia type 27
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 10q22.1-q24.1.
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hereditary spastic paraplegia 28
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SPG28; autosomal recessive spastic paraplegia 28; ..
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SPG28; autosomal recessive spastic paraplegia 28; autosomal recessive spastic paraplegia type 28
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22.
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hereditary spastic paraplegia 29
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SPG29; autosomal dominant spastic paraplegia 29
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1p31.1-p21.1.
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hereditary spastic paraplegia 30
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SPG30; autosomal recessive spastic paraplegia 30; ..
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SPG30; autosomal recessive spastic paraplegia 30; autosomal spastic paraplegia type 30; autosomal dominant spastic paraplegia 30
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37.
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hereditary spastic paraplegia 31
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SPG31; autosomal dominant spastic paraplegia 31; a..
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SPG31; autosomal dominant spastic paraplegia 31; autosomal dominant spastic paraplegia type 31
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP1 gene on chromosome 2p11.
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hereditary spastic paraplegia 32
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SPG32; autosomal recessive spastic paraplegia type..
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SPG32; autosomal recessive spastic paraplegia type 32; autosomal recessive spastic paraplegia 32
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 14q12-q21.
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hereditary spastic paraplegia 33
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SPG33; autosomal dominant spastic paraplegia 33
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE27 gene on chromosome 10q24.
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hereditary spastic paraplegia 34
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SPG34; X-linked spastic paraplegia 34; X-linked sp..
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SPG34; X-linked spastic paraplegia 34; X-linked spastic paraplegia type 34
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq24-q25.
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hereditary spastic paraplegia 35
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SPG35; autosomal recessive spastic paraplegia 35; ..
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SPG35; autosomal recessive spastic paraplegia 35; autosomal recessive spastic paraplegia type 35; FAHN; fatty acid hydroxylase-associated neurodegeneration; leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1.
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hereditary spastic paraplegia 36
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SPG36; autosomal dominant spastic paraplegia 36; a..
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SPG36; autosomal dominant spastic paraplegia 36; autosomal dominant spastic paraplegia type 36
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 12q23-q24.
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hereditary spastic paraplegia 37
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SPG37; autosomal dominant spastic paraplegia 37; a..
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SPG37; autosomal dominant spastic paraplegia 37; autosomal dominant spastic paraplegia type 37
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 8p21.1-q13.3.
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hereditary spastic paraplegia 38
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SPG38; autosomal dominant spastic paraplegia 38; a..
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SPG38; autosomal dominant spastic paraplegia 38; autosomal dominant spastic paraplegia type 38
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 4p16-p15.
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hereditary spastic paraplegia 39
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SPG39; spastic paraplegia due to NTE mutation; spa..
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spastic paraplegia due to NTE mutation; SPG39; spastic paraplegia due to neuropathy target esterase mutation; autosomal recessive spastic paraplegia 39; NTE-related motor neuron disorder; NTEMND; autosomal recessive spastic paraplegia type 39
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13.
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hereditary spastic paraplegia 3A
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SPG3A; strumpell disease; autosomal dominant famil..
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strumpell disease; SPG3A; autosomal dominant familial spastic paraplegia 1; autosomal dominant spastic paraplegia 3; autosomal dominant spastic paraplegia type 3; FSP1
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A hereditary spastic paraplegia that is characteri.. [+]
A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has_material_basis_in mutation in the ATL1 gene on chromosome 14q22.
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