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Disease	Synonyms	Description
blepharophimosis-impaired intellectual development syndrome	SMARCA2-related blepharophimosis-intellectual disa.. [+] SMARCA2-related blepharophimosis-intellectual disability syndrome [-]	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. [-]
thyroid gland spindle epithelial tumor with thymus-like elements	Spindle Epithelial Tumor with Thymus-Like Elements.. [+] 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 [-]	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. [-]
progressive pseudorheumatoid arthropathy of childhood	spondyloepiphyseal dysplasia tarda-progressive art.. [+] spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome [-]	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. [-]
Cenani-Lenz syndactyly syndrome	syndactyly type 7	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. [-]
brachyolmia-amelogenesis imperfecta syndrome	STHAG6; selective tooth agenesis 5; dental anomali.. [+] selective tooth agenesis 5; STHAG6; dental anomalies and short stature; DASS; platyspondyly with amelogenesis imperfecta [-]	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. [-]
Donnai-Barrow syndrome	syndrome of ocular and facial anomalies, telecanth.. [+] 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 [-]	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. [-]
asphyxiating thoracic dystrophy 1	SRTD1; short-rib thoracic dysplasia 1 with or with.. [+] SRTD1; short-rib thoracic dysplasia 1 with or without polydactyly; ATD1 [-]	An asphyxiating thoracic dystrophy associated with..[+] An asphyxiating thoracic dystrophy associated with variation in the region 15q13. [-]
asphyxiating thoracic dystrophy 2	SRTD2; short-rib thoracic dysplasia 2 with or with.. [+] SRTD2; short-rib thoracic dysplasia 2 with or without polydactyly; ATD2 [-]	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. [-]
asphyxiating thoracic dystrophy 3	short rib-polydactyly syndrome, type I; SRPS3; SRT.. [+] 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 [-]	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. [-]
asphyxiating thoracic dystrophy 4	SRTD4; short-rib thoracic dysplasia 4 with or with.. [+] SRTD4; short-rib thoracic dysplasia 4 with or without polydactyly; ATD4 [-]	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. [-]
asphyxiating thoracic dystrophy 5	SRTD5; short-rib thoracic dysplasia 5 with or with.. [+] SRTD5; short-rib thoracic dysplasia 5 with or without polydactyly; ATD5 [-]	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. [-]
Charcot-Marie-Tooth disease type 4K	SURF1-related severe demyelinating Charcot-Marie-T.. [+] 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 [-]	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. [-]
cleft soft palate	soft cleft palate; cleft velum; cleft velum palati.. [+] soft cleft palate; cleft velum; cleft velum palatinum [-]	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. [-]
autosomal recessive limb-girdle muscular dystrophy type 2C	severe childhood autosomal recessive muscular dyst.. [+] 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 [-]	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. [-]
autosomal recessive limb-girdle muscular dystrophy type 2H	sarcotubular myopathy; limb-girdle muscular dystro.. [+] sarcotubular myopathy; limb-girdle muscular dystrophy due to TRIM32 deficiency; muscular dystrophy Hutterite type; LGMD2H [-]	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. [-]
late-adult onset retinitis pigmentosa	senile retinitis pigmentosa	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. [-]
dilated cardiomyopathy 1J	sensorineural hearing loss with dilated cardiomyop.. [+] 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 [-]	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. [-]
rigid spine muscular dystrophy 1	SEPN1-related myopathy; severe classic form multim.. [+] 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 [-]	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. [-]
hypotrichosis 2	Spanish type hypotrichosis; Htss1; hypotrichosis s.. [+] Spanish type hypotrichosis; Htss1; hypotrichosis simplex of the scalp 1; Hypt2 [-]	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. [-]
neurodegeneration with brain iron accumulation 2a	Seitelberger Disease; INAD1; Infantile Neuroaxonal.. [+] Seitelberger Disease; INAD1; Infantile Neuroaxonal Dystrophy 1; NBIA2a; Neurodegeneration, Pla2g6-Associated [-]	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. [-]
neurodegeneration with brain iron accumulation 5	Static Encephalopathy Of Childhood With Neurodegen.. [+] Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood; SENDA; Beta-Propeller Protein-Associated Neurodegeneration; BPAN; NBIA5 [-]	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. [-]
hereditary spastic paraplegia 10	SPG10; autosomal dominant spastic paraplegia 10; a.. [+] SPG10; autosomal dominant spastic paraplegia 10; autosomal dominant spastic paraplegia type 10 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13. [-]
hereditary spastic paraplegia 11	SPG11; spastic paraplegia-intellectual disability-.. [+] 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 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. [-]
hereditary spastic paraplegia 12	SPG12; autosomal dominant spastic paraplegia 12; a.. [+] SPG12; autosomal dominant spastic paraplegia 12; autosomal dominant spastic paraplegia type 12 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the RTN2 gene on chromosome 19q13. [-]
hereditary spastic paraplegia 13	SPG13; autosomal dominant spastic paraplegia 13	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. [-]
hereditary spastic paraplegia 14	SPG14; autosomal recessive spastic paraplegia 14; .. [+] SPG14; autosomal recessive spastic paraplegia 14; autosomal recessive spastic paraplegia type 14 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 3q27-q28. [-]
hereditary spastic paraplegia 15	SPG15; spastic paraplegia-retinal degeneration syn.. [+] 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 [-]	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. [-]
hereditary spastic paraplegia 16	SPG16; X-linked spastic paraplegia type 16; X-link.. [+] SPG16; X-linked spastic paraplegia type 16; X-linked spastic paraplegia 16 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq11.2. [-]
hereditary spastic paraplegia 17	SPG17; spastic paraplegia-amyotrophy of hands and .. [+] 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 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12. [-]
hereditary spastic paraplegia 18	SPG18; autosomal recessive spastic paraplegia 18; .. [+] SPG18; autosomal recessive spastic paraplegia 18; autosomal recessive spastic paraplegia type 18; IDMDC; intellectual disability, motor dysfunction and joint contractures [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11. [-]
hereditary spastic paraplegia 19	SPG19; autosomal dominant spastic paraplegia 19; a.. [+] SPG19; autosomal dominant spastic paraplegia 19; autosomal dominant spastic paraplegia type 19 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 9q. [-]
hereditary spastic paraplegia 2	spastic paraplegia type 2; SPG2; X-linked spastic .. [+] SPG2; spastic paraplegia type 2; X-linked spastic paraplegia 2 [-]	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. [-]
hereditary spastic paraplegia 23	SPG23; spastic paraplegia with pigmentary abnormal.. [+] SPG23; spastic paraplegia with pigmentary abnormalities; Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome; spastic paraplegia 23; Lison syndrome [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32. [-]
hereditary spastic paraplegia 24	SPG24; autosomal recessive spastic paraplegia 24; .. [+] SPG24; autosomal recessive spastic paraplegia 24; autosomal recessive spastic paraplegia type 24 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 13q14. [-]
hereditary spastic paraplegia 25	SPG25; autosomal recessive spastic paraplegia 25; .. [+] SPG25; autosomal recessive spastic paraplegia 25; autosomal recessive spastic paraplegia type 25 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 6q23-q24.1. [-]
hereditary spastic paraplegia 26	SPG26; autosomal recessive spastic paraplegia 26; .. [+] SPG26; autosomal recessive spastic paraplegia 26; autosomal recessive spastic paraplegia type 26; GM2 synthase deficiency [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13. [-]
hereditary spastic paraplegia 27	SPG27; autosomal recessive spastic paraplegia 27; .. [+] SPG27; autosomal recessive spastic paraplegia 27; autosomal recessive spastic paraplegia type 27 [-]	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. [-]
hereditary spastic paraplegia 28	SPG28; autosomal recessive spastic paraplegia 28; .. [+] SPG28; autosomal recessive spastic paraplegia 28; autosomal recessive spastic paraplegia type 28 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22. [-]
hereditary spastic paraplegia 29	SPG29; autosomal dominant spastic paraplegia 29	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. [-]
hereditary spastic paraplegia 30	SPG30; autosomal recessive spastic paraplegia 30; .. [+] SPG30; autosomal recessive spastic paraplegia 30; autosomal spastic paraplegia type 30; autosomal dominant spastic paraplegia 30 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37. [-]
hereditary spastic paraplegia 31	SPG31; autosomal dominant spastic paraplegia 31; a.. [+] SPG31; autosomal dominant spastic paraplegia 31; autosomal dominant spastic paraplegia type 31 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP1 gene on chromosome 2p11. [-]
hereditary spastic paraplegia 32	SPG32; autosomal recessive spastic paraplegia type.. [+] SPG32; autosomal recessive spastic paraplegia type 32; autosomal recessive spastic paraplegia 32 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 14q12-q21. [-]
hereditary spastic paraplegia 33	SPG33; autosomal dominant spastic paraplegia 33	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE27 gene on chromosome 10q24. [-]
hereditary spastic paraplegia 34	SPG34; X-linked spastic paraplegia 34; X-linked sp.. [+] SPG34; X-linked spastic paraplegia 34; X-linked spastic paraplegia type 34 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq24-q25. [-]
hereditary spastic paraplegia 35	SPG35; autosomal recessive spastic paraplegia 35; .. [+] 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 [-]	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. [-]
hereditary spastic paraplegia 36	SPG36; autosomal dominant spastic paraplegia 36; a.. [+] SPG36; autosomal dominant spastic paraplegia 36; autosomal dominant spastic paraplegia type 36 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 12q23-q24. [-]
hereditary spastic paraplegia 37	SPG37; autosomal dominant spastic paraplegia 37; a.. [+] SPG37; autosomal dominant spastic paraplegia 37; autosomal dominant spastic paraplegia type 37 [-]	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. [-]
hereditary spastic paraplegia 38	SPG38; autosomal dominant spastic paraplegia 38; a.. [+] SPG38; autosomal dominant spastic paraplegia 38; autosomal dominant spastic paraplegia type 38 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 4p16-p15. [-]
hereditary spastic paraplegia 39	SPG39; spastic paraplegia due to NTE mutation; spa.. [+] 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 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13. [-]
hereditary spastic paraplegia 3A	SPG3A; strumpell disease; autosomal dominant famil.. [+] strumpell disease; SPG3A; autosomal dominant familial spastic paraplegia 1; autosomal dominant spastic paraplegia 3; autosomal dominant spastic paraplegia type 3; FSP1 [-]	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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