| Concept (disease/gene) | Preferred name | Synonyms | MONDO ID(s) | OMIM/MIM (if present in evidence) | Evidence notes |
|---|---|---|---|---|---|
| Disease | alpha-N-acetylgalactosaminidase deficiency | Schindler disease; Schindler/Kanzaki disease; α-NAGA deficiency (pqac-00000002, pqac-00000003, pqac-00000008) | MONDO:0017779 (alpha-N-acetylgalactosaminidase deficiency) (pqac-00000009, pqac-00000000) | Not found in retrieved full-text | ClinGen LD GCEP classified NAGA–alpha-N-acetylgalactosaminidase deficiency as **Definitive**; autosomal recessive in primary literature (pqac-00000009, pqac-00000008) |
| Disease subtype | alpha-N-acetylgalactosaminidase deficiency type 1 | Schindler disease type I; infantile Schindler disease; infantile neuroaxonal dystrophy phenotype (pqac-00000002, pqac-00000003, pqac-00000008) | MONDO:0012221 (pqac-00000000) | Not found in retrieved full-text | Severe infantile, neuroaxonal dystrophy phenotype; associated with NAGA variants (pqac-00000008, pqac-00000009) |
| Disease subtype | alpha-N-acetylgalactosaminidase deficiency type 2 | Schindler disease type II; Kanzaki disease (pqac-00000002, pqac-00000003, pqac-00000005) | MONDO:0012222 (pqac-00000000) | MIM 609242 (pqac-00000028) | Adult-onset angiokeratoma/neuropathy phenotype in retrieved evidence; included in ClinGen curation under NAGA deficiency spectrum (pqac-00000002, pqac-00000009, pqac-00000028) |
| Disease subtype | alpha-N-acetylgalactosaminidase deficiency type 3 | Schindler disease type III; intermediate Schindler disease (pqac-00000002, pqac-00000003) | MONDO:0019264 (pqac-00000000) | Not found in retrieved full-text | Intermediate phenotype; recognized in ClinGen/OpenTargets disease spectrum (pqac-00000002, pqac-00000009, pqac-00000000) |
| Gene | NAGA | alpha-N-acetylgalactosaminidase; α-NAGA; alpha-galactosidase B (historical enzyme synonym) (pqac-00000001, pqac-00000002, pqac-00000028) | Not applicable / not provided for gene in retrieved evidence | Not found in retrieved full-text | Causal gene for Schindler/Kanzaki disease; all reported affected individuals in ClinGen curation had α-NAGA enzyme deficiency; variable expressivity noted (pqac-00000008, pqac-00000009, pqac-00000049) |
| Disease (eponymic adult presentation) | Kanzaki disease | Schindler disease type II; adult-onset α-NAGA deficiency (pqac-00000002, pqac-00000003, pqac-00000005) | MONDO:0012222 when treated as type 2 in retrieved evidence (pqac-00000000) | MIM 609242 (pqac-00000028) | Adult-onset, milder phenotype with angiokeratoma corporis diffusum and related systemic features; historically named separately but now part of the α-NAGA deficiency spectrum (pqac-00000002, pqac-00000003, pqac-00000028) |
| Disease (eponymic infantile presentation) | Schindler disease | Schindler disease type I; infantile α-NAGA deficiency (pqac-00000002, pqac-00000003, pqac-00000008) | MONDO:0012221 when treated as type 1 in retrieved evidence; broader disease MONDO:0017779 (pqac-00000000, pqac-00000009) | MIM 609241 (pqac-00000028) | Original infantile neuroaxonal dystrophy presentation; primary report demonstrated autosomal recessive inheritance and E325K-associated enzyme deficiency (pqac-00000008, pqac-00000028) |


*Table: This table summarizes the disease and gene nomenclature for Schindler disease/alpha-N-acetylgalactosaminidase deficiency using only identifiers explicitly supported in the retrieved evidence. It is useful for harmonizing preferred names, synonyms, subtype MONDO terms, and evidence-backed notes on inheritance and ClinGen validity.*