Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
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
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

 Phenotype ID
|

 Phenotype details
|

 Diagnosis/Initial
|

 Diagnosis/Definite
|

 Inheritance
|

 Age/Examination
|

 Age/Diagnosis
|

 Age/Onset
|

 Phenotype/Onset
|

 Protein
|

 Owner
|

 Individual ID
|
0000050951 |
ß0 phenotype |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Andreas Laner |
00064796 |
0000050980 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Andreas Laner |
00064825 |
0000050981 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Andreas Laner |
00064826 |
0000051066 |
ß0 phenotype |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Andreas Laner |
00064911 |
0000051085 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Andreas Laner |
00064930 |
0000051089 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Andreas Laner |
00064934 |
0000051427 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065312 |
0000051428 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065317 |
0000051429 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065346 |
0000051430 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065349 |
0000051431 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065362 |
0000051432 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065363 |
0000051433 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065365 |
0000051434 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065372 |
0000051435 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065385 |
0000051436 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065393 |
0000051437 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065394 |
0000051438 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065399 |
0000051439 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065428 |
0000051440 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065438 |
0000051441 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065440 |
0000051442 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065465 |
0000051443 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065466 |
0000051444 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065480 |
0000051445 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065554 |
0000051446 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065565 |
0000051447 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065588 |
0000051448 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065656 |
0000051449 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065671 |
0000051450 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065692 |
0000051451 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065745 |
0000051452 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065774 |
0000051453 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065778 |
0000051454 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065794 |
0000051455 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065819 |
0000051456 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065862 |
0000051457 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065868 |
0000051458 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065876 |
0000051459 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065903 |
0000051460 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065917 |
0000051461 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065924 |
0000051462 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065935 |
0000051463 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065964 |
0000051464 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00065989 |
0000051465 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066016 |
0000051466 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066065 |
0000051467 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066114 |
0000051468 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066131 |
0000051469 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066176 |
0000051470 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066196 |
0000051471 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066210 |
0000051472 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066275 |
0000051473 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066279 |
0000051474 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066296 |
0000051475 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066310 |
0000051476 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066311 |
0000051477 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066323 |
0000051478 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066324 |
0000051479 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066340 |
0000051480 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066386 |
0000051481 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066397 |
0000051482 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066408 |
0000051483 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066415 |
0000051484 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066417 |
0000051485 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066421 |
0000051486 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066424 |
0000051487 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066434 |
0000051488 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066477 |
0000051489 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066527 |
0000051490 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066553 |
0000051491 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066612 |
0000051492 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066630 |
0000051493 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066631 |
0000051494 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066639 |
0000051495 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066653 |
0000051496 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066658 |
0000051497 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066668 |
0000051498 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066696 |
0000051499 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066698 |
0000051500 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066738 |
0000051501 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066741 |
0000051502 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066754 |
0000051503 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066778 |
0000051504 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066789 |
0000051505 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066796 |
0000051506 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066829 |
0000051507 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066835 |
0000051508 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066920 |
0000051509 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066941 |
0000051510 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066975 |
0000051511 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00066991 |
0000051512 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00067036 |
0000051513 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00067037 |
0000051514 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00067049 |
0000051515 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00067051 |
0000051516 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00067070 |
0000051517 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00067071 |
0000051518 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00067074 |
0000051519 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00067089 |
0000051520 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Kees Harteveld |
00067094 |