Legend
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Diagnosis/Initial: initial diagnosis, before molecular testing
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
Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)
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
Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
Protein: result from protein staining

 Phenotype ID
|

 Diagnosis/Initial
|

 Inheritance
|

 Age/Examination
|

 Diagnosis/Definite
|

 Age/Diagnosis
|

 Age/Onset
|

 Phenotype/Onset
|

 Phenotype details
|

 Protein
|

 Owner
|

 Individual ID
|
0000053584 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073767 |
0000053585 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073768 |
0000053586 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073769 |
0000053587 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073770 |
0000053588 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073771 |
0000053589 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073772 |
0000053590 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073773 |
0000053591 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073774 |
0000053592 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073775 |
0000053593 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073776 |
0000053594 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073777 |
0000053595 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073778 |
0000053596 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073779 |
0000053597 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073780 |
0000053598 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073781 |
0000053599 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073782 |
0000053600 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073783 |
0000053601 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073784 |
0000053602 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073785 |
0000053603 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073786 |
0000053604 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073787 |
0000053605 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073788 |
0000053606 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073789 |
0000053607 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073790 |
0000053608 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073791 |
0000053609 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073792 |
0000053610 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073793 |
0000053611 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073794 |
0000053612 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073795 |
0000053613 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073796 |
0000053614 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073797 |
0000053615 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073798 |
0000053616 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073799 |
0000053617 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073800 |
0000053618 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073801 |
0000053619 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073802 |
0000053620 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073803 |
0000053621 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073804 |
0000053622 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073805 |
0000053623 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073806 |
0000053624 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073807 |
0000053625 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073808 |
0000053626 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073809 |
0000053627 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073810 |
0000053628 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073811 |
0000053629 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073812 |
0000053630 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073813 |
0000053631 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073814 |
0000053632 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073815 |
0000053633 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073816 |
0000053634 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073817 |
0000053635 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073818 |
0000053636 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073819 |
0000053637 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073820 |
0000053638 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073821 |
0000053639 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073822 |
0000053640 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073823 |
0000053641 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073824 |
0000053642 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073825 |
0000053643 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073826 |
0000053644 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073827 |
0000053645 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073828 |
0000053646 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073829 |
0000053647 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073830 |
0000053648 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073831 |
0000053649 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073832 |
0000053650 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073833 |
0000053651 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073834 |
0000053652 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073835 |
0000053653 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073836 |
0000053654 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073837 |
0000053655 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073838 |
0000053656 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073839 |
0000053657 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073840 |
0000053658 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073841 |
0000053659 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073842 |
0000053660 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073843 |
0000053661 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073844 |
0000053662 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073845 |
0000053663 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073846 |
0000053664 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073847 |
0000053665 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073848 |
0000053666 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073849 |
0000053667 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073850 |
0000053668 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073851 |
0000053669 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073852 |
0000053670 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073853 |
0000053671 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073854 |
0000053672 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073855 |
0000053673 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073856 |
0000053674 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073857 |
0000053675 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073858 |
0000053676 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073859 |
0000053677 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073860 |
0000053678 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073861 |
0000053679 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073862 |
0000053680 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073863 |
0000053681 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073864 |
0000053682 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073865 |
0000053683 |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
- |
- |
Johan Van Hove |
00073866 |