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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
Charcot-Marie-Tooth disease type 5
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hereditary motor and sensory neuropathy with pyram..
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hereditary motor and sensory neuropathy with pyramidal features
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A Charcot-Marie-Tooth disease that is characterize.. [+]
A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait.
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Charcot-Marie-Tooth disease type 6
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hereditary motor and sensory neuropathy type 6
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A Charcot-Marie-Tooth disease that is characterize.. [+]
A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity.
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Marinesco-Sjogren syndrome
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hereditary oligophrenic cerebello-lental degenerat..
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hereditary oligophrenic cerebello-lental degeneration; Garland-Moorhouse syndrome; Marinesco-Garland syndrome
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An autosomal recessive disease characterized by co.. [+]
An autosomal recessive disease characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.
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Tietz syndrome
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hypopigmentation/deafness of Tietz; albinism-deafn..
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hypopigmentation/deafness of Tietz; albinism-deafness of Tietz; Tietz albinism-deafness syndrome
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A syndrome that is characterized by congenital pro.. [+]
A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13.
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Bh4-deficient hyperphenylalaninemia A
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hyperphenylalaninemia due to 6-pyruvoyltetrahydrop..
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hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; HPABH4A; 6-pyruvoyl-tetrahydropterin synthase deficiency; PTS deficiency; tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency
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An amino acid metabolic disorder characterized by .. [+]
An amino acid metabolic disorder characterized by autosomal recessive inheritance of hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has material_basis_in mutation in the PTS gene on chromosome 11q23.1.
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autosomal dominant hypocalcemia 1
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HYPOC1
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An autosomal dominant hypocalcemia disease that ha.. [+]
An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21.
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autosomal dominant hypocalcemia 2
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HYPOC2
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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.
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autosomal dominant hypocalcemia
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HYPOC
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A calcium metabolism disease characterized by auto.. [+]
A calcium metabolism disease characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone.
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Sorsby's fundus dystrophy
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hemorrhagic macular dystrophy; pseudoinflammatory ..
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hemorrhagic macular dystrophy; pseudoinflammatory fundus dystrophy of Sorsby; SFD
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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.
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ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
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Hay-Wells syndrome; AEC syndrome; ankyloblepharon-..
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Hay-Wells syndrome; AEC syndrome; ankyloblepharon-ectodermal defects-cleft lip and palate syndrome
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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.
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aromatase excess syndrome
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hereditary prepubertal gynecomastia; AEXS; familia..
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hereditary prepubertal gynecomastia; AEXS; familial hyperestrogenism; increased aromatase activity
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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.
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carnitine palmitoyltransferase I deficiency
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hepatic CPT deficiency type I; hepatic carnitine p..
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hepatic CPT deficiency type I; hepatic carnitine palmitoyl transferase I deficiency; hepatic carnitine palmitoyl transferase 1 deficiency; carnitine palmitoyl transferase 1A deficiency; carnitine palmitoyl transferase IA deficiency; CPT I deficiency; CPT1A deficiency; L-CPT1 deficiency
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A lipid metabolism disorder characterized by autos.. [+]
A lipid metabolism disorder characterized by autosomal recessive inheritance of impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in the CPT1A gene on chromosome 11q13.
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Donnai-Barrow syndrome
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Holmes-Schepens syndrome; DBS/FOAR syndrome; diaph..
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Holmes-Schepens syndrome; DBS/FOAR syndrome; diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria; diaphragmatic hernia-exomphalos-hypertelorism syndrome; diaphragmatic hernia-hypertelorism-myopia-deafness syndrome; facio-oculo-acoustico-renal syndrome; faciooculoacousticorenal syndrome; FOAR syndrome; syndrome of ocular and facial anomalies, telecanthus and deafness
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An autosomal recessive disease characterized by fa.. [+]
An autosomal recessive disease 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 LRP2 gene on chromosome 2q31.
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amelogenesis imperfecta type 1B
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hereditary localized enamel hypoplasia; AI1B; AIH2..
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hereditary localized enamel hypoplasia; AI1B; AIH2; amelogenesis imperfecta type IB; autosomal dominant hypoplastic local amelogenesis imperfecta
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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.
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Bartter disease type 1
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hypokalemic alkalosis with hypercalciuria 1 antena..
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hypokalemic alkalosis with hypercalciuria 1 antenatal; hyperprostaglandin E syndrome 1; BARTS1; Bartter syndrome type 1; Bartter syndrome type 1 antenatal
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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.
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Bartter disease type 2
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hypokalemic alkalosis with hypercalciuria 2 antena..
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hypokalemic alkalosis with hypercalciuria 2 antenatal; hyperprostaglandin E syndrome 2; BARTS2; Bartter syndrome type 2; Bartter syndrome type 2 antenatal
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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.
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Charcot-Marie-Tooth disease type 1A
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HMSN1A; hereditary motor and sensory neuropathy 1A..
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HMSN1A; hereditary motor and sensory neuropathy 1A; autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A; Charcot-Marie-Tooth neuropathy type 1A; CMT1A; microduplication 17p12
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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).
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Charcot-Marie-Tooth disease type 1D
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HMSN ID; HMSN1D; hereditary motor and sensory neur..
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HMSN1D; HMSN ID; hereditary motor and sensory neuropathy 1D; Charcot-Marie-Tooth neuropathy type 1D; CMT1D
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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).
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Charcot-Marie-Tooth disease type 1C
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HMSN IC; HMSN1C; Charcot-Marie-Tooth neuropathy ty..
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HMSN1C; HMSN IC; Charcot-Marie-Tooth neuropathy type 1C; CMT slow nerve conduction type C; CMT1C; neuropathy hereditary motor and sensory type 1C
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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.
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Charcot-Marie-Tooth disease type 1B
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HMSN IB; HMSN1B; hereditary motor and sensory neur..
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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 disease slow nerve conduction type linked to Duffy; Charcot-Marie-Tooth neuropathy type 1B; CMT1B; peroneal muscular atrophy
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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).
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Charcot-Marie-Tooth disease type 2A1
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HMSN IIA1; HMSN2A1; hereditary motor and sensory n..
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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; Charcot-Marie-Tooth neuropathy type 2A1; CMT2A1
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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.
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Charcot-Marie-Tooth disease type 2A2A
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HMSN IIA2; HMSN2A2; hereditary motor and sensory n..
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HMSN2A2; HMSN IIA2; hereditary motor and sensory neuropathy IIA2; autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth neuronal type 2A2; Charcot-Marie-Tooth neuropathy type 2A2; CMT2A2; CMT2A2A
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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.
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Charcot-Marie-Tooth disease type 2B
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HMSN IIB; HMSN2B; hereditary motor and sensory nue..
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HMSN2B; HMSN IIB; hereditary motor and sensory nueropathy IIB; autosomal dominant Charcot-Marie-Tooth disease type 2B; Charcot-Marie-Tooth neuropathy type 2B; CMT2B
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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.
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Charcot-Marie-Tooth disease axonal type 2C
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HMSN2C; hereditary motor and sensory neuropathy ty..
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HMSN2C; hereditary motor and sensory neuropathy type IIc; autosomal cominant axonal Charcot-Marie-Tooth disease type 2C; autosomal dominant Charcot-Marie-Tooth disease type 2C; Charcot-Marie-Tooth neuropathy type 2C; CMT2C
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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.
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Charcot-Marie-Tooth disease type 4D
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HMSN Lom type; HMSN-Lom; HMSN4D; HMSNL; hereditary..
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HMSNL; HMSN4D; HMSN-Lom; HMSN Lom type; hereditary motor abd sensory neuropathy LOM type; autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D; Charcot-Marie-Tooth neuropathy type 4D; CMT4D
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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 mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24.
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Charcot-Marie-Tooth disease type 4G
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HMSNR; hereditary motor and sensory neuropathy Rus..
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HMSNR; hereditary motor and sensory neuropathy Russe type; autosomal recessive Charcot-Marie-Tooth disease type 4G; Charcot-Marie-Tooth neuropathy type 4G; CMT4G
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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 mutation in the HK1 gene on chromosome 10q22.
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autosomal dominant nonsyndromic deafness 1
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hereditary low frequency hearing loss 1; autosomal..
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hereditary low frequency hearing loss 1; autosomal dominant deafness 1; DFNA1; Konigsmark syndrome; LFHL1; autosomal dominant deafness 1, with or without thrombocytopenia
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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.
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congenital hypotrichosis with juvenile macular dystrophy
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hypotrichosis with cone-rod dystrophy; Hjmd
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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.
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neurodegeneration with brain iron accumulation 3
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Hereditary ferritinopathy; Adult basal ganglia dis..
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Hereditary ferritinopathy; Adult basal ganglia disease; Ferritin-related neurodegeneration; NBIA3; Neuroferritinopathy; Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset
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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.
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congenital stationary night blindness 1A
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hemeralopia-myopia; complete CSNB X-linked; congen..
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hemeralopia-myopia; complete CSNB X-linked; congenital stationary night blindness 1A X-linked; congenital stationary night blindness with myopia; CSNB1A; myopia-night blindness; NBMI
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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.
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infantile hypophosphatasia
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Hops; phosphoethanolaminuria
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A hypophosphatasia that has_material_basis_in an a.. [+]
A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of ALPL on chromosome 1p36.12.
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familial hemophagocytic lymphohistiocytosis 1
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HPLH1; HLH1; FHL1
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A hemophagocytic lymphohistiocytosis that has_mate.. [+]
A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of HPLH1 on chromosome 9q21.3-q22.
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familial hemophagocytic lymphohistiocytosis 2
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HPLH2; HLH2; FHL2
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A hemophagocytic lymphohistiocytosis that has_mate.. [+]
A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of PRF1 on chromosome 10q22.1.
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familial hemophagocytic lymphohistiocytosis 3
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HPLH3; HLH3; FHL3
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A hemophagocytic lymphohistiocytosis that has_mate.. [+]
A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of UNC13D on chromosome 17q25.1.
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familial hemophagocytic lymphohistiocytosis 4
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HPLH4; HLH4; FHL4
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A hemophagocytic lymphohistiocytosis that has_mate.. [+]
A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of STX11 on chromosome 6q24.2.
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familial hemophagocytic lymphohistiocytosis 5
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HPLH5; HLH5; FHL5
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A hemophagocytic lymphohistiocytosis that has_mate.. [+]
A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2.
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Waardenburg syndrome type 2E
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hypogonadotropic hypogonadism with anosmia and dea..
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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
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A Waardenburg's syndrome characterized by pigmenta.. [+]
A Waardenburg's 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.
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glycine N-methyltransferase deficiency
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hypermethioninemia due to GNMT deficiency; hyperme..
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hypermethioninemia due to GNMT deficiency; hypermethioninemia due to glycine N-methyltransferase deficiency; GNMT deficiency
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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.
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platelet-type bleeding disorder 17
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hereditary thrombasthenia-thrombocytopenia; BDPLT1..
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hereditary thrombasthenia-thrombocytopenia; BDPLT17
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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.
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Ambras type hypertrichosis universalis congenita
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HTC1; Ambras syndrome
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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.
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progressive familial heart block
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hereditary bundle branch defect; familial Lenegre ..
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hereditary bundle branch defect; familial Lenegre disease; familial Lev disease; familial Lev-Lenegre disease; familial PCCD; familial progressive heart block; PFHB
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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.
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pyruvate kinase deficiency of red cells
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hemolytic anemia due to red cell pyruvate kinase d..
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hemolytic anemia due to red cell pyruvate kinase deficiency; PK deficiency; pyruvate kinase deficiency of erythrocyte
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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.
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maturity-onset diabetes of the young type 5
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hypoplastic type glomerulocystic kidney disease; a..
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hypoplastic type glomerulocystic kidney disease; atypical familial juvenile hyperuricemic nephropathy; atypical FJHN; CAKUT with diabetes; congenital anomalies of the kidney and urinary tract with diabetes; familial hypoplastic glomerulocystic kidney; MODY5; RCAD; renal cysts and diabetes syndrome
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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.
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congenital mirror movement disorder
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hereditary congenital mirror movements; hereditary..
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hereditary congenital mirror movements; hereditary congenital controlateral synkinesia; familial congenital controlateral synkinesia; familial congenital mirror movements; isolated congenital controlateral synkinesia; isolated congenital mirror movements
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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.
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subcortical band heterotopia
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HeCo; heterotopic cortex; band heterotopia; double..
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heterotopic cortex; HeCo; band heterotopia; double cortex syndrome; subcortical laminar heterotopia
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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.
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distal hereditary motor neuronopathy type 7A
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Harper-Young myopath; HMN VIIA; HMN7A; DHMN7A; dis..
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HMN7A; HMN VIIA; Harper-Young myopath; DHMN7A; distal hereditary motor neuropathy type VIIA; distal spinal muscular atrophy with vocal cord paralysis type 7A
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A distal hereditary motor neuropathy type 7 charac.. [+]
A distal hereditary motor neuropathy type 7 characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis that has_material_basis_in heterozygous mutation in SLC5A7 on 2q12.3.
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distal hereditary motor neuronopathy type 5
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HMN5; DHMN5; distal hereditary motor neuropathy ty..
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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
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An autosomal dominant distal hereditary motor neur.. [+]
An autosomal dominant distal hereditary motor neuronopathy characterized by muscle weakness and wasting, predominantly confined to the hands, and often exclusively involve thenar and/or interosseus dorsalis I eminences.
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distal hereditary motor neuronopathy type 2A
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HMN IIA; HMN2A; autosomal dominant adult spinal mu..
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HMN2A; HMN IIA; autosomal dominant adult spinal muscular atrophy IIA; distal hereditary motor neuropathy type IIA; spinal Charcot-Marie-Tooth disease IIA
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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.
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distal hereditary motor neuronopathy type 2D
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HMN IID; HMN2D; distal hereditary motor neuropathy..
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HMN2D; HMN IID; distal hereditary motor neuropathy type IID; distal spinal muscular atrophy with calf predominance
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A distal hereditary motor neuropathy type 2 that h.. [+]
A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in FBXO38 on 5q32.
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Sveinsson chorioretinal atrophy
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HPCD; helicoid peripapillary chorioretinal degener..
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HPCD; helicoid peripapillary chorioretinal degeneration; atrophia areata; peripapillary chorioretinal degeneration, Icelandic type; SCRA
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An eye disease characterized by presence in the fu.. [+]
An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in TEAD1 on 11p15.3.
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