Case#: Patient 17 (group 2), Poland, female 39 years old (age at diagnosis), 39 years old (age at baseline), 42 years old (current age)

DiseaseAssertion: MPS1-S

FamilyInfo: N/A

CasePresentingHPOs: Limitation of join mobility, joint stiffness (HP:0001376, HP:0001387)

CaseHPOFreeText: Patients in group 2 had normal mental development or only slightly delayed mental development and, therefore, could undergo active physical rehabilitation.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: Diagnosis of MPS I was confirmed by the biochemical determination of α-L-iduronidase activity deficiency in leukocytes and by molecular analysis.

CaseUrineGAGs: N/A

CaseERT: Yes, weekly infusions for 52-208 weeks (depending on the patient)

CaseBMT: N/A

Variant1: There are multiple variants listed for this patient (974-975ins12/L118, N181,IVS5(1486)C>T, IVS8(2537)insC,T410, V4541,R489, IVS10(3013)G>T, IVS12(3512)T>G) all of which have old, difficult nomenclature. Therefore, we cannot determine what the current nomenclature is.

Variant1ClinVarID: N/A

Variant1CAID: N/A

Variant2: See above.

Variant2ClinVarID: N/A

Variant2CAID: N/A

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

Case#: Patient 16 (group 2), Poland, male 32 years old (age at diagnosis), 32 years old (age at baseline), 35 years old (current age)

DiseaseAssertion: MPS1-S

FamilyInfo: N/A

CasePresentingHPOs: Limitation of join mobility, joint stiffness (HP:0001376, HP:0001387)

CaseHPOFreeText: Patients in group 2 had normal mental development or only slightly delayed mental development and, therefore, could undergo active physical rehabilitation.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: Diagnosis of MPS I was confirmed by the biochemical determination of α-L-iduronidase activity deficiency in leukocytes and by molecular analysis.

CaseUrineGAGs: N/A

CaseERT: Yes, weekly infusions for 52-208 weeks (depending on the patient)

CaseBMT: N/A

Variant1: There are multiple variants listed for this patient (974-975ins12/L118, N181,IVS5(1486)C>T, IVS8(2537)insC,T410, V4541,R489, IVS10(3013)G>T, IVS12(3512)T>G) all of which have old, difficult nomenclature. Therefore, we cannot determine what the current nomenclature is.

Variant1ClinVarID: N/A

Variant1CAID: N/A

Variant2: See above.

Variant2ClinVarID: N/A

Variant2CAID: N/A

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

Naming is such a powerful mark of identity. In it, it defers what the object/person actually is. The executions are thus called salvagings, the abusers are called Aunts as a form of a mother's harsh love, and the place of happiness is called Jezebel's. In a sense, morality is shifted (ironically) through the use of contradicting nomenclature.

"Megamodules"?: * http://i.stanford.edu/pub/gio/1992/cacm-final.ps * https://dl.acm.org/doi/pdf/10.1145/138844.138853

Nomenclature is an "agreed-upon naming scheme, one that does not follow any classificatory principles."

Nomenclature is an "agreed-upon naming scheme, one that does not follow any classificatory principles."