Phenotypes for disease #01680 (BCD (dystrophy, corneoretinal, crystalline, Bietti (BCD)), OMIM:210370)

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Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Diagnosis: age diagnosis was confirmed

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Protein: result from protein staining

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419 entries on 5 pages. Showing entries 1 - 100.

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Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000060712	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081136
0000060713	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081137
0000060714	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081138
0000060715	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081139
0000060717	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081141
0000060719	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081143
0000060721	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081145
0000060723	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081147
0000060725	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081149
0000060726	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081150
0000060727	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081151
0000060729	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081153
0000060730	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081154
0000060732	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081156
0000060733	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081157
0000060734	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081158
0000060736	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081160
0000060737	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081161
0000060739	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081163
0000060740	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081165
0000060741	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081166
0000060742	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081167
0000060743	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081168
0000060744	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081169
0000060745	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081170
0000060746	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081171
0000060748	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081173
0000060750	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081175
0000060751	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081176
0000060752	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081177
0000060753	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081178
0000060754	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081179
0000060755	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081180
0000060756	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081181
0000060757	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081182
0000060758	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081183
0000060760	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081185
0000060762	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081187
0000060764	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081189
0000060766	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081191
0000060768	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081193
0000060770	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081195
0000060772	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081197
0000060774	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081199
0000060775	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081200
0000060776	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081201
0000060778	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081203
0000060780	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081205
0000060782	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081207
0000060783	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081208
0000060784	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081209
0000060785	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081210
0000060786	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081211
0000060787	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081214
0000060788	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081215
0000060790	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081217
0000060792	affected with Bietti corneoretina dystrophy	-	-	Familial, autosomal recessive	-	-	-	-	-	James Hejtmancik	00081219
0000068461	lipid inclusions in lymphocytes	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00089069
0000068462	lipid inclusions in lymphocytes	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00089070
0000068463	lipid inclusions in lymphocytes	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00089071
0000068464	lipid inclusions in lymphocytes	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00089072
0000068465	lipid inclusions in lymphocytes	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00089073
0000068466	lipid inclusions in lymphocytes	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00089074
0000068467	lipid inclusions in lymphocytes	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00089075
0000068468	lipid inclusions in lymphocytes	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00089076
0000068469	lipid inclusions in lymphocytes	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00089077
0000068470	lipid inclusions in lymphocytes	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00089078
0000068471	lipid inclusions in lymphocytes	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00089079
0000068472	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00089080
0000068473	lipid inclusions in lymphocytes	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00089081
0000068474	lipid inclusions in lymphocytes	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00089082
0000068475	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00089083
0000068476	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00089084
0000068477	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00089085
0000068478	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00089086
0000068479	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00089087
0000068480	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00089088
0000068481	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00089089
0000068482	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00089090
0000068483	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00089091
0000185263	-	Bietti Crystalline Corneal-Retinal Dystrophy	-	Unknown	-	-	-	-	-	Kerry Goetz	00245312
0000185269	-	Bietti Crystalline Corneal-Retinal Dystrophy	-	Unknown	-	-	-	-	-	Kerry Goetz	00245318
0000185272	-	Bietti Crystalline Corneal-Retinal Dystrophy	-	Unknown	-	-	-	-	-	Kerry Goetz	00245321
0000273516	HP:0001141, HP:0000662, HP:0000613, HP:0001133, HP:0000007, HP:0000510	dystrophy, corneoretinal, crystalline, Bietti (BCD)	-	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379672
0000273637	HP:0032037, HP:0001133, HP:0000510	-	-	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379782
0000301420	best corrected visual acuity right, left eye: 1.0,0.6, electroretinogram amplitudes (uV) right, left eye: 120,not determined; corneal deposit: no; numerous small retinal crystalline deposits concentrated in the posterior pole	-	dystrophy, corneoretinal, crystalline, Bietti (BCD)	Familial, autosomal recessive	50y	-	-	-	-	LOVD	00409303
0000301421	best corrected visual acuity right, left eye: 0.5,1.0,, electroretinogram amplitudes (uV) right, left eye: not determined,27; corneal deposit: no; numerous small retinal crystalline deposits concentrated in the posterior pole	-	dystrophy, corneoretinal, crystalline, Bietti (BCD)	Familial, autosomal recessive	52y	-	-	-	-	LOVD	00409304
0000301422	best corrected visual acuity right, left eye: 0.7,0.9, electroretinogram amplitudes (uV) right, left eye: 207,not determined; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole	-	dystrophy, corneoretinal, crystalline, Bietti (BCD)	Familial, autosomal recessive	46y	-	-	-	-	LOVD	00409305
0000301423	best corrected visual acuity right, left eye: 0.2,1.5, electroretinogram amplitudes (uV) right, left eye: 274,296; corneal deposit: no; numerous small retinal crystalline deposits concentrated in the posterior pole	-	dystrophy, corneoretinal, crystalline, Bietti (BCD)	Familial, autosomal recessive	38y	-	-	-	-	LOVD	00409306
0000301424	best corrected visual acuity right, left eye: 0.9,0.7, electroretinogram amplitudes (uV) right, left eye: 385,not determined; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole	-	dystrophy, corneoretinal, crystalline, Bietti (BCD)	Familial, autosomal recessive	52y	-	-	-	-	LOVD	00409307
0000301425	best corrected visual acuity right, left eye: 0.5,0.5, electroretinogram amplitudes (uV) right, left eye: 311,not determined; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole	-	dystrophy, corneoretinal, crystalline, Bietti (BCD)	Familial, autosomal recessive	54y	-	-	-	-	LOVD	00409308
0000301426	best corrected visual acuity right, left eye: 1.2,1.2, electroretinogram amplitudes (uV) right, left eye: 312,not determined; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole	-	dystrophy, corneoretinal, crystalline, Bietti (BCD)	Familial, autosomal recessive	47y	-	-	-	-	LOVD	00409309
0000301427	best corrected visual acuity right, left eye: 1.0,1.2, electroretinogram amplitudes (uV) right, left eye: 296,not determined; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole	-	dystrophy, corneoretinal, crystalline, Bietti (BCD)	Familial, autosomal recessive	54y	-	-	-	-	LOVD	00409310
0000301428	best corrected visual acuity right, left eye: 0.5,0.6, electroretinogram amplitudes (uV) right, left eye: 329,323; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole	-	dystrophy, corneoretinal, crystalline, Bietti (BCD)	Familial, autosomal recessive	26y	-	-	-	-	LOVD	00409311
0000301429	best corrected visual acuity right, left eye: 0.4,0.2, electroretinogram amplitudes (uV) right, left eye: 229,206; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole	-	dystrophy, corneoretinal, crystalline, Bietti (BCD)	Familial, autosomal recessive	21y	-	-	-	-	LOVD	00409312
0000301430	best corrected visual acuity right, left eye: 0.8,0.05, electroretinogram amplitudes (uV) right, left eye: 71,29; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole	-	dystrophy, corneoretinal, crystalline, Bietti (BCD)	Familial, autosomal recessive	45y	-	-	-	-	LOVD	00409313
0000301433	-	-	dystrophy, corneoretinal, crystalline, Bietti (BCD)	Familial, autosomal recessive	-	-	-	-	-	LOVD	00409316
0000301434	-	-	dystrophy, corneoretinal, crystalline, Bietti (BCD)	Familial, autosomal recessive	-	-	-	-	-	LOVD	00409317
0000301435	-	-	dystrophy, corneoretinal, crystalline, Bietti (BCD)	Familial, autosomal recessive	-	-	-	-	-	LOVD	00409318
0000301436	-	-	dystrophy, corneoretinal, crystalline, Bietti (BCD)	Familial, autosomal recessive	-	-	-	-	-	LOVD	00409319

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Global Variome shared LOVD

PKLR (pyruvate kinase, liver and RBC)