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Disease	Synonyms	Description	Articles
BH4-deficient hyperphenylalaninemia A	hyperphenylalaninemia due to 6-pyruvoyltetrahydrop.. [+] hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; HPABH4A; 6-pyruvoyl-tetrahydropterin synthase deficiency; PTS deficiency; tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency [-]	A tetrahydrobiopterin (BH4)-deficient hyperphenyla..[+] A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1. [-]
autosomal dominant hypocalcemia 1	HYPOC1	An autosomal dominant hypocalcemia disease that ha..[+] An autosomal dominant hypocalcemia disease that has material_basis_in heterozygous mutation in the CASR gene on chromosome 3q21. [-]
autosomal dominant hypocalcemia 2	HYPOC2	An autosomal dominant hypocalcemia disease that ha..[+] An autosomal dominant hypocalcemia disease that has material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13. [-]
autosomal dominant hypocalcemia	HYPOC	A metal metabolism disorder characterized by autos..[+] A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone. [-]	1 articles
Sorsby's fundus dystrophy	hemorrhagic macular dystrophy; pseudoinflammatory .. [+] hemorrhagic macular dystrophy; pseudoinflammatory fundus dystrophy of Sorsby; SFD [-]	A hereditary retinal dystrophy characterized by au..[+] A hereditary retinal dystrophy characterized by autosomal dominant inheritance of loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life that has_material_basis_in heterozygous mutation in the TIMP3 gene on chromosome 22q12. [-]
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	Hay-Wells syndrome; AEC syndrome; ankyloblepharon-.. [+] Hay-Wells syndrome; AEC syndrome; ankyloblepharon-ectodermal defects-cleft lip and palate syndrome [-]	An ectodermal dysplasia that is characterized by a..[+] An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27. [-]
aromatase excess syndrome	hereditary prepubertal gynecomastia; AEXS; familia.. [+] hereditary prepubertal gynecomastia; AEXS; familial hyperestrogenism; increased aromatase activity [-]	A reproductive system disease characterized by inc..[+] A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene. [-]
carnitine palmitoyltransferase I deficiency	hepatic carnitine palmitoyl transferase I deficien.. [+] hepatic carnitine palmitoyl transferase I deficiency; hepatic CPT deficiency type I; hepatic carnitine palmitoyl transferase 1 deficiency; carnitine palmitoyl transferase 1A deficiency; CPT I deficiency; CPT1A deficiency; carnitine palmitoyl transferase IA deficiency; L-CPT1 deficiency [-]	A lipid metabolism disorder that is characterized ..[+] A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13. [-]
Donnai-Barrow syndrome	Holmes-Schepens syndrome; diaphragmatic hernia-exo.. [+] Holmes-Schepens syndrome; diaphragmatic hernia-exomphalos-hypertelorism syndrome; diaphragmatic hernia-hypertelorism-myopia-deafness syndrome; facio-oculo-acoustico-renal syndrome; syndrome of ocular and facial anomalies, telecanthus and deafness; 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. [-]
amelogenesis imperfecta type 1B	hereditary localized enamel hypoplasia; AI1B; amel.. [+] hereditary localized enamel hypoplasia; AI1B; amelogenesis imperfecta type IB; AIH2; autosomal dominant hypoplastic local amelogenesis imperfecta [-]	An amelogenesis imperfecta that has material basis..[+] An amelogenesis imperfecta that has material basis in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13. [-]
Bartter disease type 1	hypokalemic alkalosis with hypercalciuria 1 antena.. [+] hypokalemic alkalosis with hypercalciuria 1 antenatal; hyperprostaglandin E syndrome 1; BARTS1; Bartter syndrome type 1; Bartter syndrome type 1 antenatal [-]	A Bartter disease that has_material_basis_in homoz..[+] A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21. [-]	1 articles
Bartter disease type 2	hypokalemic alkalosis with hypercalciuria 2 antena.. [+] hypokalemic alkalosis with hypercalciuria 2 antenatal; hyperprostaglandin E syndrome 2; BARTS2; Bartter syndrome type 2; Bartter syndrome type 2 antenatal [-]	A Bartter disease that has_material_basis_in homoz..[+] A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24. [-]	1 articles
Charcot-Marie-Tooth disease type 1A	HMSN1A; hereditary motor and sensory neuropathy 1A.. [+] HMSN1A; hereditary motor and sensory neuropathy 1A; autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A; CMT1A; Charcot-Marie-Tooth neuropathy type 1A; microduplication 17p12 [-]	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22). [-]
Charcot-Marie-Tooth disease type 1D	hereditary motor and sensory neuropathy 1D; HMSN1D.. [+] hereditary motor and sensory neuropathy 1D; HMSN1D; HMSN ID; Charcot-Marie-Tooth neuropathy type 1D; CMT1D [-]	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2). [-]
Charcot-Marie-Tooth disease type 1C	HMSN IC; HMSN1C; Charcot-Marie-Tooth neuropathy ty.. [+] HMSN1C; HMSN IC; Charcot-Marie-Tooth neuropathy type 1C; CMT1C; neuropathy hereditary motor and sensory type 1C; CMT slow nerve conduction type C [-]	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13. [-]
Charcot-Marie-Tooth disease type 1B	HMSN IB; HMSN1B; hereditary motor and sensory neur.. [+] HMSN1B; HMSN IB; hereditary motor and sensory neuropathy IB; autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B; Charcot-Marie-Tooth neuropathy type 1B; CMT1B; peroneal muscular atrophy; Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy [-]	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ). [-]	1 articles
Charcot-Marie-Tooth disease type 2A1	HMSN IIA1; HMSN2A1; hereditary motor and sensory n.. [+] HMSN2A1; HMSN IIA1; hereditary motor and sensory neuropathy IIA1; autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1; Charcot-Marie-Tooth disease neuronal type 2A1; CMT2A1; Charcot-Marie-Tooth neuropathy type 2A1 [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36. [-]
Charcot-Marie-Tooth disease type 2A2A	HMSN IIA2; HMSN2A2; hereditary motor and sensory n.. [+] HMSN2A2; HMSN IIA2; hereditary motor and sensory neuropathy IIA2; autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth neuropathy type 2A2; CMT2A2; Charcot-Marie-Tooth neuronal type 2A2; CMT2A2A [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22. [-]
Charcot-Marie-Tooth disease type 2B	hereditary motor and sensory nueropathy IIB; HMSN2.. [+] hereditary motor and sensory nueropathy IIB; HMSN2B; HMSN IIB; Charcot-Marie-Tooth neuropathy type 2B; CMT2B; autosomal dominant Charcot-Marie-Tooth disease type 2B [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21. [-]	1 articles
Charcot-Marie-Tooth disease axonal type 2C	HMSN2C; hereditary motor and sensory neuropathy ty.. [+] HMSN2C; hereditary motor and sensory neuropathy type IIc; autosomal dominant Charcot-Marie-Tooth disease type 2C; Charcot-Marie-Tooth neuropathy type 2C; CMT2C; autosomal cominant axonal Charcot-Marie-Tooth disease type 2C [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24. [-]
Charcot-Marie-Tooth disease type 4D	HMSN Lom type; HMSNL; hereditary motor abd sensory.. [+] HMSNL; HMSN Lom type; hereditary motor abd sensory neuropathy LOM type; HMSN4D; HMSN-Lom; hereditary motor and sensory neuropathy LOM type; autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D; CMT4D; Charcot-Marie-Tooth neuropathy type 4D [-]	A Charcot-Marie-Tooth disease type 4 that has_mate..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24. [-]
Charcot-Marie-Tooth disease type 4G	HMSNR; hereditary motor and sensory neuropathy Rus.. [+] HMSNR; hereditary motor and sensory neuropathy Russe type; autosomal recessive Charcot-Marie-Tooth disease type 4G; CMT4G; Charcot-Marie-Tooth neuropathy type 4G [-]	A Charcot-Marie-Tooth disease type 4 that has_mate..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22. [-]
autosomal recessive nonsyndromic deafness 32	hearing impairment infertile male syndrome; HIIMS; .. [+] HIIMS; hearing impairment infertile male syndrome; autosomal recessive deafness 32; DFNB32; autosomal recessive deafness 105 [-]	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and male infertility in some affected men that has_material_basis_in mutation in the CDC14A gene on chromosome 1p21.2. [-]
autosomal dominant nonsyndromic deafness 1	hereditary low frequency hearing loss 1; autosomal.. [+] hereditary low frequency hearing loss 1; autosomal dominant deafness 1; DFNA1; Konigsmark syndrome; autosomal dominant deafness 1, with or without thrombocytopenia; LFHL1 [-]	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31. [-]
congenital hypotrichosis with juvenile macular dystrophy	Hjmd; hypotrichosis with cone-rod dystrophy	A hypotrichosis that has_material_basis_in a autos..[+] A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the CDH3 gene on chromosome 16q22.1. [-]
neurodegeneration with brain iron accumulation 3	Hereditary ferritinopathy; Adult basal ganglia dis.. [+] Hereditary ferritinopathy; Adult basal ganglia disease; Ferritin-related neurodegeneration; Neuroferritinopathy; NBIA3; Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset [-]	A neurodegeneration with brain iron accumulation t..[+] A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33. [-]
congenital stationary night blindness 1A	hemeralopia-myopia; congenital stationary night bl.. [+] hemeralopia-myopia; congenital stationary night blindness 1A X-linked; congenital stationary night blindness with myopia; CSNB1A; myopia-night blindness; NBMI; complete CSNB X-linked [-]	A congenital stationary night blindness that has_m..[+] A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4. [-]
infantile hypophosphatasia	Hops; phosphoethanolaminuria	A hypophosphatasia that has_material_basis_in homo..[+] A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36. [-]
familial hemophagocytic lymphohistiocytosis 1	HPLH1; HLH1; FHL1	A hemophagocytic lymphohistiocytosis that has_mate..[+] A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the HPLH1 gene on chromosome 9q21.3-q22. [-]
familial hemophagocytic lymphohistiocytosis 2	HPLH2; HLH2; FHL2	A hemophagocytic lymphohistiocytosis that has_mate..[+] A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the PRF1 gene on chromosome 10q22.1. [-]
familial hemophagocytic lymphohistiocytosis 3	HLH3; HPLH3; FHL3	A hemophagocytic lymphohistiocytosis that has_mate..[+] A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the UNC13D gene on chromosome 17q25.1. [-]
familial hemophagocytic lymphohistiocytosis 4	HPLH4; HLH4; FHL4	A hemophagocytic lymphohistiocytosis that has_mate..[+] A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the STX11 gene on chromosome 6q24.2. [-]
familial hemophagocytic lymphohistiocytosis 5	HLH5; HPLH5; FHL5	A hemophagocytic lymphohistiocytosis that has_mate..[+] A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2. [-]
Waardenburg syndrome type 2E	hypogonadotropic hypogonadism with anosmia and dea.. [+] hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation; Waardenburg syndrome type 2E with or without neurologic involvement; Waardenburg syndrome type IIE; WS2E; WS2E with or without neurological involvement [-]	A Waardenburg syndrome characterized by pigmentary..[+] A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13. [-]
glycine N-methyltransferase deficiency	hypermethioninemia due to GNMT deficiency; hyperme.. [+] hypermethioninemia due to GNMT deficiency; hypermethioninemia due to glycine N-methyltransferase deficiency; GNMT deficiency [-]	A hypermethioninemia characterized by autosomal re..[+] A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has_material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21. [-]
platelet-type bleeding disorder 17	hereditary thrombasthenia-thrombocytopenia; BDPLT1.. [+] hereditary thrombasthenia-thrombocytopenia; BDPLT17 [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34. [-]
Ambras type hypertrichosis universalis congenita	HTC1; Ambras syndrome	A hypertrichosis characterized by autosomal domina..[+] A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has_material_basis_in chromosomal abnormalities in the region 8q22. [-]
progressive familial heart block	hereditary bundle branch defect; familial Lenegre .. [+] hereditary bundle branch defect; familial Lenegre disease; familial Lev disease; familial Lev-Lenegre disease; familial PCCD; PFHB; familial progressive heart block [-]	A heart conduction disease characterized by autoso..[+] A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death. [-]
pyruvate kinase deficiency of red cells	hemolytic anemia due to red cell pyruvate kinase d.. [+] hemolytic anemia due to red cell pyruvate kinase deficiency; PK deficiency; pyruvate kinase deficiency of erythrocyte [-]	A congenital nonspherocytic hemolytic anemia that ..[+] A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22. [-]
maturity-onset diabetes of the young type 5	hypoplastic type glomerulocystic kidney disease; a.. [+] hypoplastic type glomerulocystic kidney disease; atypical familial juvenile hyperuricemic nephropathy; CAKUT with diabetes; congenital anomalies of the kidney and urinary tract with diabetes; familial hypoplastic glomerulocystic kidney; MODY5; renal cysts and diabetes syndrome; atypical FJHN; RCAD [-]	A maturity-onset diabetes of the young characteriz..[+] A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12. [-]	2 articles
congenital mirror movement disorder	hereditary congenital mirror movements; hereditary.. [+] hereditary congenital mirror movements; hereditary congenital controlateral synkinesia; familial congenital controlateral synkinesia; familial congenital mirror movements; isolated congenital controlateral synkinesia; isolated congenital mirror movements [-]	A movement disease characterized by involuntary mo..[+] A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs. [-]
subcortical band heterotopia	HeCo; heterotopic cortex; band heterotopia; double.. [+] heterotopic cortex; HeCo; band heterotopia; double cortex syndrome; subcortical laminar heterotopia [-]	A congenital nervous system abnormality characteri..[+] A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex. [-]
myofibrillar myopathy 9	HIBM-ERF; HMERF; hereditary myopathy with early re.. [+] HMERF; HIBM-ERF; hereditary myopathy with early respiratory failure; Hereditary inclusion body myopathy with early respiratory failure; autosomal dominant distal myopathy with early respiratory failure; Edstrom myopathy; MFM-titinopathy; MFM9; MPRM; myofibrillar myopathy 9 with early respiratory failure; Myofibrillar myopathy-titinopathy; proximal myopathy with early respiratory muscle involvement [-]	A myofibrillar myopathy characterized by adult ons..[+] A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. [-]
autosomal dominant distal hereditary motor neuronopathy 7	Harper-Young myopath; HMN VIIA; HMN7A; dHMN7; DHMN.. [+] HMN7A; HMN VIIA; Harper-Young myopath; dHMN7; DHMNVPy; distal spinal muscular atrophy with vocal cord paralysis; DHMN7A; distal hereditary motor neuronopathy type 7; distal hereditary motor neuropathy type VIIA; distal spinal muscular atrophy with vocal cord paralysis type 7A [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3. [-]
autosomal dominant distal hereditary motor neuronopathy 1	HMN I; autosomal dominant distal juvenile spinal m.. [+] HMN I; autosomal dominant distal juvenile spinal muscular atrophy type 1; dHMN1; distal hereditary motor neuropathy type I; spinal Charcot-Marie-Tooth disease 1; distal hereditary motor neuronopathy type 1 [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration and that has_material_basis_in heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2. This structural variant (SV) results in the production of a novel gene-intergenic fusion transcript, UBE3C-IF. [-]
autosomal dominant distal hereditary motor neuronopathy 14	Harper-Young myopathy; HMN VIIB; HMN7B; DHMN7B; di.. [+] HMN7B; HMN VIIB; Harper-Young myopathy; DHMN7B; distal hereditary motor neuronopathy type 7B; distal hereditary motor neuropathy type VIIB; distal spinal muscular atrophy with vocal cord paralysis type 7B [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1. [-]
autosomal dominant distal hereditary motor neuronopathy 5	HMN5; DHMN5; distal hereditary motor neuropathy ty.. [+] HMN5; DHMN5; distal hereditary motor neuropathy type V; distal HMN V; distal spinal muscular atrophy type V; distal spinal muscular atrophy with upper limb predominance; DSMAV; distal hereditary motor neuronopathy type 5; distal hereditary motor neuronopathy type 5A; distal HMN VA; distal spinal muscular atrophy type VA [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14. [-]
autosomal dominant distal hereditary motor neuronopathy 2	HMN II; HMN2; HMN IIA; HMN2A; distal hereditary mo.. [+] HMN2A; HMN IIA; HMN2; HMN II; distal hereditary motor neuropathy type II; autosomal dominant adult spinal muscular atrophy IIA; distal hereditary motor neuronopathy type 2; distal hereditary motor neuronopathy type 2A; distal hereditary motor neuropathy type IIA; spinal Charcot-Marie-Tooth disease IIA [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. [-]
autosomal dominant distal hereditary motor neuronopathy 3	HMN IIB; HMN2B; distal hereditary motor neuropathy.. [+] HMN2B; HMN IIB; distal hereditary motor neuropathy type IIB; distal hereditary motor neuronopathy type 2B [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23. [-]
autosomal dominant distal hereditary motor neuronopathy 4	HMN IIC; HMN2C; DHMN2C; distal hereditary motor ne.. [+] HMN2C; HMN IIC; DHMN2C; distal hereditary motor neuronopathy type 2C; distal hereditary motor neuropathy type IIC [-]	A distal hereditary motor neuropathy that has_mate..[+] A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the HSPB3 gene on 5q11.2. [-]

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