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Disease	Synonyms	Description
hereditary spastic paraplegia 51	spastic quadriplegic cerebral palsy 4; SPG51; auto.. [+] SPG51; spastic quadriplegic cerebral palsy 4; autosomal dominant spastic paraplegia 51; CPSQ4 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21. [-]
hereditary spastic paraplegia 52	spastic quadriplegic cerebral palsy 6; SPG52; auto.. [+] SPG52; spastic quadriplegic cerebral palsy 6; autosomal recessive spastic paraplegia 52; CPSQ6 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12. [-]
hereditary spastic paraplegia 53	SPG53; autosomal recessive spastic paraplegia 53; .. [+] SPG53; autosomal recessive spastic paraplegia 53; autosomal recessive spastic paraplegia type 53 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the VPS37A gene on chromosome 8p22. [-]
hereditary spastic paraplegia 54	SPG54; autosomal recessive spastic paraplegia 54; .. [+] SPG54; autosomal recessive spastic paraplegia 54; autosomal recessive spastic paraplegia type 54 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11. [-]
hereditary spastic paraplegia 55	SPG55; autosomal recessive spastic paraplegia 55; .. [+] SPG55; autosomal recessive spastic paraplegia 55; autosomal recessive spastic paraplegia type 55 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the C12ORF65 gene on chromosome 12q24. [-]
hereditary spastic paraplegia 56	SPG56; autosomal recessive spastic paraplegia 56; .. [+] SPG56; autosomal recessive spastic paraplegia 56; autosomal recessive spastic paraplegia type 56 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25. [-]
hereditary spastic paraplegia 57	SPG57; autosomal recessive spastic paraplegia 57; .. [+] SPG57; autosomal recessive spastic paraplegia 57; autosomal recessive spastic paraplegia type 57 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the TFG gene on chromosome 3q12. [-]
hereditary spastic paraplegia 5A	SPG5A; autosomal recessive spastic paraplegia 5A; .. [+] SPG5A; autosomal recessive spastic paraplegia 5A; autosomal recessive spastic paraplegia type 5A [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12. [-]
hereditary spastic paraplegia 6	SPG6; autosomal dominant familial spastic parapleg.. [+] SPG6; autosomal dominant familial spastic paraplegia type 3; autosomal dominant spastic paraplegia 6; autosomal dominant spastic paraplegia type 6; FSP3 [-]	A hereditary spastic paraplegia that is usually ch..[+] A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2 [-]
hereditary spastic paraplegia 61	SPG61; autosomal recessive spastic paraplegia 61; .. [+] SPG61; autosomal recessive spastic paraplegia 61; autosomal recessive spastic paraplegia type 61 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the ARL6IP1 gene on chromosome 16p12. [-]
hereditary spastic paraplegia 62	SPG62; autosomal recessive spastic paraplegia 62; .. [+] SPG62; autosomal recessive spastic paraplegia 62; autosomal recessive spastic paraplegia type 62 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN1 gene on chromosome 10q24. [-]
hereditary spastic paraplegia 63	spastic paraplegia 63; SPG63; autosomal recessive .. [+] SPG63; spastic paraplegia 63; autosomal recessive spastic paraplegia 63 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the AMPD2 gene on chromosome 1p13. [-]
hereditary spastic paraplegia 64	SPG64; autosomal recessive spastic paraplegia 64; .. [+] SPG64; autosomal recessive spastic paraplegia 64; autosomal recessive spastic paraplegia type 64 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the ENTPD1 gene on chromosome 10q24. [-]
hereditary spastic paraplegia 7	spastic paraplegia type 7; SPG7; autosomal recessi.. [+] SPG7; spastic paraplegia type 7; autosomal recessive spastic paraplegia 7 [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the SPG7 gene on chromosome 16q24. [-]
hereditary spastic paraplegia 72	SPG72; autosomal spastic paraplegia type 72	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP2 gene on chromosome 5q31. [-]
hereditary spastic paraplegia 73	SPG73; autosomal dominant spastic paraplegia 73; a.. [+] SPG73; autosomal dominant spastic paraplegia 73; autosomal dominant spastic paraplegia type 73 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the CPT1C gene on chromosome 19q13. [-]
hereditary spastic paraplegia 74	SPG74; autosomal recessive spastic paraplegia 74	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the IBA57 gene on chromosome 1q42. [-]
hereditary spastic paraplegia 75	SPG75; autosomal recessive spastic paraplegia 75; .. [+] SPG75; autosomal recessive spastic paraplegia 75; autosomal recessive spastic paraplegia type 75 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13. [-]
hereditary spastic paraplegia 76	SPG76; autosomal recessive spastic paraplegia 76	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the CAPN1 gene on chromosome 11q13. [-]
hereditary spastic paraplegia 77	SPG77; autosomal recessive spastic paraplegia 77	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the FARS2 gene on chromosome 6p25. [-]
hereditary spastic paraplegia 8	SPG8; autosomal dominant spastic paraplegia 8; aut.. [+] SPG8; autosomal dominant spastic paraplegia 8; autosomal dominant spastic paraplegia type 8 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the KIAA0196 gene on chromosome 8q24. [-]
hereditary spastic paraplegia 9A	SPG9A; spastic paraparesis-amyopathy-cataracts-gas.. [+] SPG9A; spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome; spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux; AD-SPG9A; autosomal dominant complex spastic paraplegia type 9A; autosomal dominant spastic paraplegia 9A; Cataracts motor neuropathy-short stature-skeletal anomalies syndrome; cataracts with motor neuronopathy, short stature and skeletal abnormalities [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the ALDH18A1 gene on chromosome 10q24. [-]
hereditary spastic paraplegia 9B	SPG9B; autosomal recessive complex spastic paraple.. [+] SPG9B; autosomal recessive complex spastic paraplegia type 9B; autosomal recessive spastic paraplegia 9B [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. [-]
hereditary spherocytosis type 1	SPH1; hereditary spherocytosis 1; HS1	A hereditary spherocytosis that has_material_basis..[+] A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the ANK1 gene on chromosome 8p11.21. [-]
hereditary spherocytosis type 2	SPH2; hereditary spherocytosis 2; HS2	A hereditary spherocytosis that has_material_basis..[+] A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of SPTB on chromosome 14q23.3. [-]
hereditary spherocytosis type 3	SPH3; hereditary spherocytosis 3; HS3	A hereditary spherocytosis that has_material_basis..[+] A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of SPTA1 on chromosome 1q23.1. [-]
hereditary spherocytosis type 4	SPH4; hereditary spherocytosis 4; HS4	A hereditary spherocytosis that has_material_basis..[+] A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SLC4A1 gene on chromosome 17q21.31. [-]
hereditary spherocytosis type 5	SPH5; hereditary spherocytosis 5; HS5	A hereditary spherocytosis that has_material_basis..[+] A hereditary spherocytosis that has_material_basis_in a mutation of EPB42 on chromosome 15q15.2. [-]
Mononen-Karnes-Senac syndrome	short and abducted thumbs and great toes; Mononen .. [+] short and abducted thumbs and great toes; Mononen type brachydactyly [-]	A brachydactyly characterized by short, abducted t..[+] A brachydactyly characterized by short, abducted thumbs and great toes. [-]
hemochromatosis type 1	symptomatic form of HFE-related hereditary hemochr.. [+] symptomatic form of HFE-related hereditary hemochromatosis; symptomatic form of hemochromatosis type 1; symptomatic form of classic hemochromatosis; HFE1 [-]	A hemochromatosis that has_material_basis_in homoz..[+] A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22. [-]
platelet-type bleeding disorder 19	severe autosomal recessive macrothrombocytopenia; .. [+] severe autosomal recessive macrothrombocytopenia; BDPLT19 [-]	An inherited blood coagulation disease characteriz..[+] An inherited blood coagulation disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21 [-]
distal spinal muscular atrophy 1	spinal muscular atrophy with respiratory distress .. [+] spinal muscular atrophy with respiratory distress type 1; SMARD1; SIANRF; severe infantile axonal neuropathy with respiratory failure type 1; autosomal recessive spinal muscular atrophy with respiratory distress; dHMN6; diaphragmatic spinal muscular atrophy; distal hereditary motor neuropathy type 6; distal-HMN type 6; DSMA1; autosomal recessive distal spinal muscular atrophy 1 [-]	A spinal muscular atrophy characterized by autosom..[+] A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. [-]
autosomal recessive distal spinal muscular atrophy 2	spinal muscular atrophy Jerash type; dHMNJ; distal.. [+] spinal muscular atrophy Jerash type; dHMNJ; distal hereditary motor neuropathy Jerash type; DSMA2 [-]	A spinal muscular atrophy characterized by autosom..[+] A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13. [-]
postural orthostatic tachycardia syndrome	soldiers heart; familial orthostatic tachycardia d.. [+] soldiers heart; familial orthostatic tachycardia due to norepinephrine transporter deficiency; irritable heart; mitral valve prolapse syndrome; neurocirculatory asthenia; orhtostatic intolerance; orthostatic intolerance due to NET deficiency; postural tachycardia syndrome due to NET deficiency [-]	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. [-]
autosomal recessive spinocerebellar ataxia 21	SCAR21; acute infantile liver failure-cerebellar a.. [+] SCAR21; acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; autosomal recessive spinocerebellar ataxia 21 with hepatopathy [-]	An autosomal recessive cerebellar ataxia that has_..[+] An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13. [-]
autosomal dominant sensory ataxia 1	SNAX1; ADSA	A hereditary ataxia characterized by gait difficul..[+] A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8. [-]
autosomal dominant adult-onset proximal spinal muscular atrophy	SMAFK; autosomal dominant adult proximal spinal mu.. [+] SMAFK; autosomal dominant adult proximal spinal muscular atrophy; autosomal dominant adult-onset proximal SMA; autosomal dominant late-onset spinal muscular atrophy, Finkel type; Finkel disease; Finkel late-adult type SMA [-]	A spinal muscular atrophy characterized by adult-o..[+] A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13. [-]
distal hereditary motor neuronopathy type 2A	spinal Charcot-Marie-Tooth disease IIA; autosomal .. [+] spinal Charcot-Marie-Tooth disease IIA; autosomal dominant adult spinal muscular atrophy IIA; distal hereditary motor neuropathy type IIA; HMN IIA; HMN2A [-]	A distal hereditary motor neuropathy type 2 that h..[+] A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB8 on 12q24.23. [-]
mucopolysaccharidosis type IIIC	Sanfilippo syndrome type C; Acetyl-CoA alpha-gluco.. [+] Sanfilippo syndrome type C; Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency; Heparan-alpha-glucosaminide N-acetyltransferase deficiency; HGSNAT deficiency; MPS3C; MPSIIIC; Mucopolysaccharidosis type 3C; mucopolysaccharidosis type IIIC (Sanfilippo C) [-]	A mucopolysaccharidosis III that has_material_basi..[+] A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1. [-]
mucopolysaccharidosis type IIID	Sanfilippo syndrome D; Sanfilippo syndrome type D; .. [+] Sanfilippo syndrome type D; Sanfilippo syndrome D; GNS deficiency; MPS IIID; MPS3D; Mucopolysaccharidosis type 3D; N-acetylglucosamine-6-sulfatase deficiency [-]	A mucopolysaccharidosis III that has_material_basi..[+] A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. [-]
combined oxidative phosphorylation deficiency 7	severe C12ORF65-related COXPD; severe C12ORF65-rel.. [+] severe C12ORF65-related COXPD; severe C12ORF65-related combined oxidative phosphorylation defect; COXPD7 [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31. [-]
linear nevus sebaceous syndrome	SFM syndrome; Solomon syndrome; Schimmelpenning sy.. [+] Solomon syndrome; SFM syndrome; Schimmelpenning syndrome; Schimmelpenning Feuerstein Mims syndrome; Jadassohn nevus phakomatosis; JNP; nevus sebaceus of Jadassohn; nevus sebaceus syndrome; organoid nevus phakomatosis; organoid nevus syndrome [-]	A syndrome characterized by sebaceous nevi typical..[+] A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively. [-]
neurogenic scapuloperoneal syndrome Kaeser type	Stark-Kaeser syndrome; scapuloperoneal syndrome, n.. [+] Stark-Kaeser syndrome; scapuloperoneal syndrome, neurogenic, Kaeser type; scapuloperoneal syndrome type Kaeser; Kaeser syndrome [-]	A myopathy characterized by adult onset of foot do..[+] A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35. [-]
distal arthrogryposis type 2B	Sheldon-Hall syndrome; DA2B; Freeman-Sheldon syndr.. [+] Sheldon-Hall syndrome; DA2B; Freeman-Sheldon syndrome variant [-]	A distal arthrogryposis characterized by contractu..[+] A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. [-]
autosomal recessive spinocerebellar ataxia 3	SCABD; SCAR3; autosomal recessive spinocerebellar .. [+] SCAR3; SCABD; autosomal recessive spinocerebellar ataxia type 3; autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome; autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome [-]	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21. [-]
autosomal recessive spinocerebellar ataxia 27	SCAR27	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP2 gene on chromosome 1p12. [-]
primary hyperoxaluria type 1	serine pyruvate aminotransferase deficiency; alani.. [+] serine pyruvate aminotransferase deficiency; alanine-glyoxylate aminotransferase deficiency; glycolic aciduria; hepatic AGT deficiency; HP1; oxalosis I; peroxisomal alanine-glyoxylate aminotransferase deficiency [-]	A primary hyperoxaluria characterized by failure t..[+] A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3. [-]
diffuse cystic renal dysplasia	susceptibility to cystic renal dysplasia; CYSRD; r.. [+] susceptibility to cystic renal dysplasia; CYSRD; renal dysplasia diffuse cystic [-]	A cystic kidney disease characterized by nonsyndro..[+] A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in the BICC1 gene on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder. [-]
aminoglycoside-induced deafness	streptomycin-induced deafness; streptomycin ototox.. [+] streptomycin-induced deafness; streptomycin ototoxicity [-]	A drug-induced hearing loss characterized by heari..[+] A drug-induced hearing loss characterized by hearing loss induced by therapeutic doses of aminoglycoside antibiotics that has_material_basis_in mutation in the mitochondrial genes MTRNR1 or MTCO1 in combination with homozygous mutation in TRMU on chromosome 22q13.31. [-]
cerebellar ataxia type 41	SCA41	An autosomal dominant cerebellar ataxia that has_m..[+] An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the TRPC3 gene on chromosome 4q27. [-]

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