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Disease	Synonyms	Description
Charcot-Marie-Tooth disease type 5	hereditary motor and sensory neuropathy with pyram.. [+] hereditary motor and sensory neuropathy with pyramidal features [-]	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. [-]
Charcot-Marie-Tooth disease type 6	hereditary motor and sensory neuropathy type 6	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. [-]
Marinesco-Sjogren syndrome	hereditary oligophrenic cerebello-lental degenerat.. [+] hereditary oligophrenic cerebello-lental degeneration; Garland-Moorhouse syndrome; Marinesco-Garland syndrome [-]	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. [-]
Tietz syndrome	hypopigmentation/deafness of Tietz; albinism-deafn.. [+] hypopigmentation/deafness of Tietz; albinism-deafness of Tietz; Tietz albinism-deafness syndrome [-]	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. [-]
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 [-]	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. [-]
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 calcium sensing receptor gene (CASR) 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 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. [-]
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 CPT deficiency type I; hepatic carnitine p.. [+] 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 [-]	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. [-]
Donnai-Barrow syndrome	Holmes-Schepens syndrome; DBS/FOAR syndrome; diaph.. [+] 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 [-]	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. [-]
amelogenesis imperfecta type 1B	hereditary localized enamel hypoplasia; AI1B; AIH2.. [+] hereditary localized enamel hypoplasia; AI1B; AIH2; amelogenesis imperfecta type IB; 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. [-]
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. [-]
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; Charcot-Marie-Tooth neuropathy type 1A; CMT1A; 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	HMSN ID; HMSN1D; hereditary motor and sensory neur.. [+] HMSN1D; HMSN ID; hereditary motor and sensory neuropathy 1D; 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; CMT slow nerve conduction type C; CMT1C; neuropathy hereditary motor and sensory type 1C [-]	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 disease slow nerve conduction type linked to Duffy; Charcot-Marie-Tooth neuropathy type 1B; CMT1B; peroneal muscular atrophy [-]	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). [-]
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; Charcot-Marie-Tooth neuropathy type 2A1; CMT2A1 [-]	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 neuronal type 2A2; Charcot-Marie-Tooth neuropathy type 2A2; CMT2A2; 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	HMSN IIB; HMSN2B; hereditary motor and sensory nue.. [+] HMSN2B; HMSN IIB; hereditary motor and sensory nueropathy IIB; autosomal dominant Charcot-Marie-Tooth disease type 2B; Charcot-Marie-Tooth neuropathy type 2B; CMT2B [-]	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. [-]
Charcot-Marie-Tooth disease axonal type 2C	HMSN2C; hereditary motor and sensory neuropathy ty.. [+] 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 [-]	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; HMSN-Lom; HMSN4D; HMSNL; hereditary.. [+] 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 [-]	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; Charcot-Marie-Tooth neuropathy type 4G; CMT4G [-]	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 dominant nonsyndromic deafness 1	hereditary low frequency hearing loss 1; autosomal.. [+] hereditary low frequency hearing loss 1; autosomal dominant deafness 1; DFNA1; Konigsmark syndrome; LFHL1; autosomal dominant deafness 1, with or without thrombocytopenia [-]	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	hypotrichosis with cone-rod dystrophy; Hjmd	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; NBIA3; Neuroferritinopathy; 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; complete CSNB X-linked; congen.. [+] hemeralopia-myopia; complete CSNB X-linked; congenital stationary night blindness 1A X-linked; congenital stationary night blindness with myopia; CSNB1A; myopia-night blindness; NBMI [-]	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 an a..[+] A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of ALPL on chromosome 1p36.12. [-]
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 HPLH1 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 PRF1 on chromosome 10q22.1. [-]
familial hemophagocytic lymphohistiocytosis 3	HPLH3; HLH3; FHL3	A hemophagocytic lymphohistiocytosis that has_mate..[+] A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of UNC13D 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 STX11 on chromosome 6q24.2. [-]
familial hemophagocytic lymphohistiocytosis 5	HPLH5; HLH5; 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'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. [-]
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; familial progressive heart block; PFHB [-]	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; 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 [-]	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. [-]
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. [-]
distal hereditary motor neuronopathy type 7A	Harper-Young myopath; HMN VIIA; HMN7A; DHMN7A; dis.. [+] HMN7A; HMN VIIA; Harper-Young myopath; DHMN7A; distal hereditary motor neuropathy type VIIA; distal spinal muscular atrophy with vocal cord paralysis type 7A [-]	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. [-]
distal hereditary motor neuronopathy type 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 [-]	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. [-]
distal hereditary motor neuronopathy type 2A	HMN IIA; HMN2A; autosomal dominant adult spinal mu.. [+] HMN2A; HMN IIA; autosomal dominant adult spinal muscular atrophy IIA; distal hereditary motor neuropathy type IIA; spinal Charcot-Marie-Tooth disease IIA [-]	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. [-]
distal hereditary motor neuronopathy type 2D	HMN IID; HMN2D; distal hereditary motor neuropathy.. [+] HMN2D; HMN IID; distal hereditary motor neuropathy type IID; distal spinal muscular atrophy with calf predominance [-]	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. [-]
Sveinsson chorioretinal atrophy	HPCD; helicoid peripapillary chorioretinal degener.. [+] HPCD; helicoid peripapillary chorioretinal degeneration; atrophia areata; peripapillary chorioretinal degeneration, Icelandic type; SCRA [-]	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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