IEMbase vs DisMech phenotype comparisons

These notes compare cached IEMbase disease JSON records against the current local DisMech entries. They are manual curation notes, not evidence sources. Use them as worklist triage for mapping corrections, phenotype gaps, and subtype-placement decisions.

Source inputs for these batches:

• IEMbase cache: data/iembase/disease_index.json and data/iembase/diseases/*.json
• Generated crosswalk: data/iembase/dismech_mapping.tsv
• DisMech entries: kb/disorders/*.yaml
• Review date: 2026-07-07

Batch 1

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
1	PAH-related Phenylalanine hydroxylase deficiency	MAPPED	High concordance with Phenylketonuria.yaml; minor IEMbase-only lab and clinical detail.
3	GCH1-related GTP cyclohydrolase I deficiency, autosomal recessive	UNMAPPED	False negative; local subtype coverage exists under BH4 and catecholamine-synthesis umbrellas.
4	PTS-related 6-pyruvoyl-tetrahydropterin synthase deficiency	MAPPED	Correct subtype mapping; local coverage is good at umbrella level but lacks subtype-specific pterin/enzyme detail.
5	QDPR-related dihydropteridine reductase deficiency	MAPPED	Correct subtype mapping; local coverage is good but DHPR-specific imaging/EEG and pterin details are sparse.
6	PCBD1-related pterin carbinolamine-4a-dehydratase deficiency	UNMAPPED	False negative; local PCD Deficiency subtype exists, with phenotype/biochemical gaps.
7	GCH1-related GTP cyclohydrolase I deficiency, autosomal dominant	UNMAPPED	False negative; local AD dopa-responsive dystonia entry is the best target.
8	SPR-related sepiapterin reductase deficiency	AMBIGUOUS	Both local umbrellas are defensible; choose one canonical mapping and keep the other as secondary context.
9	SLC22A5-related primary carnitine deficiency	MAPPED	High concordance; local DisMech is broader clinically, IEMbase is richer for acylcarnitine panels.
11	CPS1-related carbamoyl phosphate synthetase I deficiency	AMBIGUOUS	Standalone disease is the curation target; umbrella subtype causes duplicate exact match.
12	NAGS-related N-acetylglutamate synthase deficiency	AMBIGUOUS	Standalone disease is the curation target; umbrella subtype causes duplicate exact match.

Batch 2

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
13	OTC-related ornithine transcarbamylase deficiency	AMBIGUOUS	Standalone OTC deficiency is canonical; umbrella UCD subtype causes duplicate match.
14	ASS1-related argininosuccinate synthetase deficiency	AMBIGUOUS	Standalone citrullinemia type I is canonical; umbrella UCD subtype causes duplicate match.
15	ASL-related argininosuccinate lyase deficiency	AMBIGUOUS	Standalone argininosuccinic aciduria is canonical; umbrella UCD subtype causes duplicate match.
16	ARG1-related arginase 1 deficiency	MAPPED	Correct mapping; high concordance, with DisMech richer for chronic neurologic sequelae and pegzilarginase.
17	SLC25A15-related mitochondrial ornithine transporter deficiency	MAPPED	Correct HHH mapping; high concordance, with IEMbase adding fibroblast assay, factor, and dialysis detail.
18	SLC25A13-related citrin deficiency	MAPPED	Correct mapping; high concordance, with IEMbase richer for neonatal labs and diet-avoidance details.
19	FAH-related fumarylacetoacetase deficiency	MAPPED	Correct HT1 mapping; high concordance, with IEMbase adding ocular, renal, and lab-compartment detail.
20	TAT-related tyrosine aminotransferase deficiency	CANDIDATE	False positive to HT1; local standalone tyrosinemia type II/TAT deficiency is missing.
21	HPD-related 4-hydroxyphenylpyruvate dioxygenase deficiency	UNMAPPED	Local standalone tyrosinemia type III/HPD deficiency is missing; alkaptonuria candidate is false positive.
22	HPD-related Hawkinsinuria	UNMAPPED	Local standalone Hawkinsinuria is missing; alkaptonuria candidate is false positive.

Batch 3

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
23	HGD-related homogentisic acid oxidase deficiency	MAPPED	Correct alkaptonuria mapping; high concordance, with DisMech substantially richer overall.
24	MAT1A-related methionine adenosyltransferase I-III deficiency	MAPPED	Correct MAT I/III subtype mapping; IEMbase adds granular neurologic and ratio-marker detail.
25	GNMT-related glycine N-methyltransferase deficiency	UNMAPPED	No valid local target; GAMT deficiency is a false-positive fuzzy candidate.
26	AHCY-related S-adenosylhomocysteine hydrolase deficiency	UNMAPPED	No valid local target; CESD is a false-positive fuzzy candidate.
27	CBS-related cystathionine beta-synthase deficiency	MAPPED	Correct homocystinuria mapping; high concordance, with IEMbase adding selected diagnostic markers.
28	CTH-related cystathionine gamma-lyase deficiency	UNMAPPED	No valid local target; homocystinuria is a misleading pathway-neighbor candidate.
29	SUOX-related isolated sulfite oxidase deficiency	UNMAPPED	No valid local target; SCO1-related COX deficiency is a false-positive fuzzy candidate.
30	MTR-related methionine synthase deficiency	MAPPED	Correct cblG subtype mapping; DisMech covers the umbrella but lacks some cblG-specific labs/imaging.
31	MTRR-related methionine synthase reductase deficiency, cblE	MAPPED	Correct cblE subtype mapping; DisMech covers the umbrella but lacks some cblE-specific labs/imaging.
32	GLDC-related nonketotic hyperglycinemia	MAPPED	Correct NKH mapping; high concordance, with IEMbase richer for specific EEG and MRI subfeatures.

Batch 4

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
33	PHGDH-related 3-phosphoglycerate dehydrogenase deficiency	UNMAPPED	No valid local target; missing serine-biosynthesis disorder, not a NKH or PHGDH-cancer-metabolism match.
34	PSPH-related phosphoserine phosphatase deficiency	UNMAPPED	No valid local target; PDH phosphatase deficiency is a lexical false-positive candidate.
35	PSAT1-related phosphoserine aminotransferase deficiency	UNMAPPED	No valid local target; ornithine aminotransferase deficiency is a false-positive aminotransferase candidate.
36	ABAT-related GABA transaminase deficiency	UNMAPPED	No valid local target; GEFS+ and SSADH are GABA-related but mechanistically distinct.
37	ALDH5A1-related succinic semialdehyde dehydrogenase deficiency	MAPPED	Correct SSADH mapping; high concordance, with IEMbase adding granular EEG/MRI detail and DisMech adding vigabatrin cautions.
38	ALDH4A1-related pyrroline-5-carboxylate dehydrogenase deficiency	UNMAPPED	No valid local target; PDH deficiency and ALDH18A1 P5CS deficiency are false-positive neighbors.
39	SLC36A2/SLC6A20/SLC6A19-related iminoglycinuria	UNMAPPED	No valid local target; not Hartnup disease despite partial SLC6A19 overlap.
40	PRODH-related proline dehydrogenase deficiency	UNMAPPED	No valid local target; benign hyperprolinemia type I should not map to 22q11.2 deletion syndrome.
41	GLUL-related glutamine synthetase deficiency	UNMAPPED	No valid local target; LIAS deficiency is a false-positive synthetase/encephalopathy candidate.
42	ALDH18A1-related pyrroline-5-carboxylate synthetase deficiency, SPG9A	AMBIGUOUS	Resolve to ALDH18A1_De_Barsy_Spectrum.yaml#SPG9A; parent spectrum remains context.

Batch 5

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
43	AASS-related alpha-aminoadipic semialdehyde synthase deficiency	UNMAPPED	No valid local target; primary AASS hyperlysinemia/saccharopinuria is not SSADH deficiency or NADK2-related DECR deficiency.
45	HAL-related histidine ammonia-lyase deficiency	UNMAPPED	No valid local target; HMGCL deficiency is a false-positive aciduria/ketone neighbor.
46	UROC1-related urocanase deficiency	UNMAPPED	No valid local target; urocanic aciduria should not map to UMPS hereditary orotic aciduria.
47	FTCD-related formimidoyltransferase cyclodeaminase deficiency	UNMAPPED	No valid local target; FIGLU/formiminoglutamic aciduria should not map to hereditary orotic aciduria.
48	SLC3A1-related cystinuria type A	MAPPED	Correct cystinuria mapping; prefer Cystinuria.yaml#Cystinuria type A if subtype anchors are supported.
49	SLC1A1-related dicarboxylic aminoaciduria	UNMAPPED	No valid local target; distinct from Hartnup neutral aminoaciduria and cystinuria dibasic/cystine transport disease.
50	SLC6A19-related Hartnup disorder	MAPPED	Correct Hartnup mapping; high concordance, with DisMech richer for mechanism, biomarkers, and management.
51	SLC7A7-related lysinuric protein intolerance	UNMAPPED	No valid local target; high-priority future curation, and not Hartnup or cystinuria.
52	PEPD-related prolidase deficiency	UNMAPPED	No valid local target; future standalone PEPD/iminodipeptiduria curation would be clinically rich.
53	CNDP1-related carnosine dipeptidase 1 deficiency	UNMAPPED	No valid local target; benign/minimal biochemical carnosinemia and homocarnosinosis record.

Batch 6

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
55	BCKDHA-related branched-chain ketoacid dehydrogenase E1-alpha deficiency	UNMAPPED	False negative; resolve to Maple_Syrup_Urine_Disease.yaml#Type IA when subtype anchors are supported.
56	IVD-related isovaleryl-CoA dehydrogenase deficiency	MAPPED	Correct IVA mapping; high concordance, with IEMbase adding granular lab, MRI, and cytopenia detail.
57	MCCC1-related 3-methylcrotonyl-CoA carboxylase 1 deficiency	CANDIDATE	Accept candidate as correct file-level mapping to 3-Methylcrotonyl-CoA_Carboxylase_Deficiency.yaml; local file covers MCCC1/MCCC2 jointly.
58	AUH-related 3-methylglutaconyl-CoA hydratase deficiency	UNMAPPED	No valid local target; GA1/GCDH is a false-positive fuzzy neighbor for AUH/MGA1.
59	TAZ-related Barth syndrome	MAPPED	Correct Barth syndrome mapping; high concordance, with IEMbase adding selected facial, oral-ulcer, sepsis, and clot/stroke detail.
60	OPA3-related methylglutaconic aciduria type 3	UNMAPPED	No valid local target; GA1/GCDH is a false-positive fuzzy neighbor for OPA3/Costeff syndrome.
62	HMGCL-related 3-hydroxy-3-methylglutaryl-CoA lyase deficiency	MAPPED	Correct HMGCLD mapping; high concordance, with IEMbase adding C6DC, enzyme-assay, and crisis-imaging detail.
63	ACADSB-related 2-methylbutyryl-CoA dehydrogenase deficiency	MAPPED	Correct SBCADD mapping; high concordance, with explicit C5-isomer distinction from IVA.
64	HSD17B10-related 17-beta-hydroxysteroid dehydrogenase type 10 deficiency	UNMAPPED	False negative; local HSD10_Mitochondrial_Disease.yaml is the correct target despite low fuzzy score.
66	HIBCH-related 3-hydroxyisobutyryl-CoA hydrolase deficiency	MAPPED	Correct HIBCH mapping; high concordance, with IEMbase adding fibroblast assay and granular valine-pathway markers.

Batch 7

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
67	HIBADH-related 3-hydroxyisobutyrate dehydrogenase deficiency	CANDIDATE	False positive to SSADH deficiency; local standalone HIBADH/3-hydroxyisobutyric aciduria target is missing.
68	PCCA-related Propionic acidemia	MAPPED	Correct propionic acidemia mapping; high concordance, with PCCA covered inside the PCCA/PCCB disease entry.
69	MMUT-related Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	MAPPED	Correct MMA mapping; high concordance, with MMUT mut0/mut- coverage inside the isolated MMA entry.
70	SLC46A1-related Proton-coupled folate transporter deficiency	UNMAPPED	No valid local target; primary carnitine deficiency is a false-positive transporter/treatability neighbor.
71	FOLR1-related Folate receptor alpha deficiency	UNMAPPED	No valid local target; PDH deficiency and secondary DHPR cerebral folate deficiency are not primary FOLR1 disease.
72	MTHFR-related 5,10-methylenetetrahydrofolate reductase deficiency	UNMAPPED	False negative; local MTHFR subtype/branch coverage exists under methionine-cycle disorder and homocystinuria entries.
73	DHFR-related Dihydrofolate reductase deficiency	UNMAPPED	No valid local target; DHPR/QDPR deficiency and antimicrobial DHFR modules are false-positive folate/acronym neighbors.
75	ALDH7A1-related Alpha-amino adipic semialdehyde dehydrogenase deficiency	UNMAPPED	No valid local target; SSADH deficiency is a false-positive semialdehyde dehydrogenase neighbor.
76	PNPO-related Pyridoxamine 5-phosphate oxidase deficiency	UNMAPPED	No valid local target; COA3-related COX deficiency is a false-positive mitochondrial/deficiency neighbor.
77	MOCS1-related Molybdenum cofactor deficiency A	UNMAPPED	No valid local target; Fanconi anemia FA-A is a false-positive complementation-group acronym collision.

Batch 8

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
78	MOCS2-related Molybdopterin synthase deficiency	UNMAPPED	No valid local target; PTPS/tetrahydrobiopterin deficiency is a false-positive pterin-neighbor candidate.
79	GPHN-related Molybdenum cofactor deficiency C	UNMAPPED	No valid MoCo-C target; local GPHN hyperekplexia content is a gene collision, not molybdenum cofactor disease.
80	CBLIF-related Intrinsic factor deficiency	MAPPED	Correct intrinsic factor deficiency mapping; high concordance, with DisMech stronger for mechanism and treatment rationale.
82	CUBN-related Cubilin deficiency	UNMAPPED	No valid Imerslund-Grasbeck target; hereditary orotic aciduria is a false-positive megaloblastic-anemia neighbor.
83	AMN-related Amnionless deficiency	UNMAPPED	No valid Imerslund-Grasbeck target; hereditary orotic aciduria is a false-positive megaloblastic-anemia neighbor.
84	TCN1-related Haptocorrin deficiency	UNMAPPED	No valid TCN1/haptocorrin target; PDH E3-binding protein deficiency is a false positive, and disease-entry scope needs review.
85	TCN2-related Transcobalamin 2 deficiency	MAPPED	Correct TCN2 subtype mapping; high concordance, with IEMbase adding chronic diarrhea, apathy, and cyanocobalamin detail.
86	MMAA-related Methylmalonic aciduria, cblA type	MAPPED	Correct cblA subtype mapping; use methylmalonic acidemia as secondary phenotype/treatment context.
87	MMAB-related Methylmalonic aciduria, cblB type	MAPPED	Correct cblB subtype mapping; use methylmalonic acidemia as secondary phenotype/treatment context.
88	MMADHC-related Methylmalonic aciduria, cblDv2 type	UNMAPPED	False negative; resolve to the cobalamin umbrella's cblD subtype, with optional future cblD-v2 subtype split.

Batch 9

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
89	MMADHC-related Homocystinuria, cblDv1 type	UNMAPPED	False negative; resolve to the cobalamin umbrella's cblD subtype, with optional future cblD-HC subtype split.
90	MMACHC-related Methylmalonic aciduria and homocystinuria, cblC type	MAPPED	Mapped to the cobalamin umbrella, but the standalone cblC entry is the better canonical target.
91	LMBRD1-relasted Methylmalonic aciduria and homocystinuria, cblF type	MAPPED	Correct cblF subtype mapping; high concordance, with IEMbase adding cblF-specific lab-compartment detail.
92	CD320-related Transcobalamin receptor defect	UNMAPPED	No valid local target; methylmalonic acidemia is a false-positive fuzzy candidate and the cobalamin umbrella lacks CD320.
93	BTD-related Biotinidase deficiency	MAPPED	Correct biotinidase deficiency mapping; high concordance, with IEMbase adding selected oral and mitral-valve clinical rows.
94	HLCS-related Holocarboxylase synthetase deficiency	MAPPED	Correct HLCS mapping; high concordance, with IEMbase adding ataxia and mitral valvulitis as phenotype review targets.
95	SLC19A2-related Thiamine transporter 1 deficiency	UNMAPPED	No valid local TRMA/Rogers syndrome target; SLC19A2 appears only as secondary monogenic-diabetes context.
96	AGXT-related Alanine-glyoxylate aminotransferase deficiency (peroxisomal)	UNMAPPED	False negative; resolve to Primary_Hyperoxaluria_Type_1.yaml, not the ornithine aminotransferase false-positive candidate.
97	GRHPR-related Glyoxylate reductase/hydroxypyruvate reductase deficiency	UNMAPPED	False negative; resolve to Primary_Hyperoxaluria_Type_2.yaml, not the pyruvate dehydrogenase false-positive candidate.
99	TH-related Tyrosine hydroxylase deficiency	AMBIGUOUS	Resolve to Autosomal_Recessive_Dopa_Responsive_Dystonia.yaml; catecholamine synthesis and DRD umbrellas are secondary context.

Batch 10

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
100	DDC-related Aromatic L-amino acid decarboxylase deficiency	AMBIGUOUS	Standalone AADC deficiency is canonical; catecholamine-synthesis umbrella subtype is secondary context.
101	DBH-related Dopamine beta-hydroxylase deficiency	UNMAPPED	No valid local target; congenital adrenal hyperplasia 11B-OHD is a beta-hydroxylase lexical false positive.
102	MAOA-related Monoamine oxidase A deficiency	UNMAPPED	No valid local target; needs future MAOA/monoamine catabolism scope, not catecholamine synthesis or chronic granulomatous disease.
103	SLC6A3-related Dopamine transporter deficiency	MAPPED	Correct infantile parkinsonism-dystonia mapping; high concordance, with DisMech richer for mechanism and treatment caveats.
104	GAMT-related Guanidinoacetate methyltransferase deficiency	MAPPED	Correct GAMT mapping; high concordance, with IEMbase adding specimen-compartment detail and osteoporosis as a review target.
105	GATM-related Arginine:glycine amidinotransferase deficiency	MAPPED	Correct AGAT mapping; high concordance, with IEMbase adding urinary creatine/creatinine ratio and compartment-specific GAA rows.
106	SLC6A8-related Creatine transporter deficiency	CANDIDATE	Generated AGAT candidate is false; correct target is Creatine_Transporter_Deficiency.yaml.
107	FECH-related Ferrochelatase deficiency	MAPPED	Correct current target is inherited porphyria's EPP subtype; IEMbase adds FECH-specific iron/ferritin and microcytosis detail.
108	ALAS2-related Erythroid 5-aminolevulinate synthase superactivity	UNMAPPED	False negative to inherited porphyria EPP/X-linked protoporphyria branch; future XLP split may be warranted.
109	PPOX-related Protoporphyrinogen oxidase deficiency	UNMAPPED	False negative; resolve to inherited porphyria's variegate porphyria subtype, with future standalone VP curation possible.

Batch 11

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
110	ALAS2-related Erythroid 5-aminolevulinate synthase deficiency	UNMAPPED	True gap; do not conflate ALAS2 deficiency/X-linked sideroblastic anemia with ALAS2 superactivity/X-linked protoporphyria.
111	UROS-related Uroporphyrinogen III synthase deficiency	MAPPED	Correct CEP subtype mapping; DisMech stronger for mechanism and complications, IEMbase adds type I porphyrin isomers and dental/urine signs.
112	HMBS-related Porphobilinogen deaminase deficiency	MAPPED	Correct standalone AIP mapping; high concordance, with IEMbase adding renal, hepatic, cancer-risk, and broader neuropsychiatric review targets.
113	CPOX-related Coproporphyrinogen oxidase deficiency	MAPPED	Correct HCP subtype mapping; IEMbase adds HCP-specific stool coproporphyrin III and attack-detail granularity.
114	UROD-related Hepatic uroporphyrinogen decarboxylase deficiency	UNMAPPED	False negative to UROD-related PCT/HEP subtypes, but the IEMbase label spans multiple UROD-related categories.
115	ALAD-related Delta-aminolevulinate dehydratase deficiency	MAPPED	Correct standalone ADP mapping; high biochemical concordance, with IEMbase adding autonomic/renal/severe-attack details.
116	STAR-related Steroidogenic acute regulatory protein deficiency	UNMAPPED	False negative to Congenital_Adrenal_Hyperplasia.yaml#Lipoid CAH; needs STAR-specific biochemical and 46,XY undervirilization detail.
117	CYP17A1-related 17-alpha-Hydroxylase deficiency	MAPPED	Correct 17A-OHD subtype mapping; IEMbase adds steroid/mineralocorticoid precursor profile granularity.
118	HSD3B2-related 3-beta-Hydroxysteroid dehydrogenase deficiency	MAPPED	Correct 3B-HSD subtype mapping, but local subtype-specific mechanism/biochemical coverage is thin.
119	CYP21A2-related 21-Hydroxylase deficiency	MAPPED	Correct CAH/21-OHD mapping with strong local coverage; IEMbase adds granular ACTH/renin/electrolyte/androgen biomarkers.

Batch 12

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
120	CYP11B1-related 11-beta-Hydroxylase type 1 deficiency	MAPPED	Correct CAH mapping, with subtype resolution to Congenital_Adrenal_Hyperplasia.yaml#11B-OHD; IEMbase adds CYP11B1 steroid/electrolyte detail.
122	CYP11B1-related 11-beta-Hydroxylase superactivity	MAPPED	Correct standalone familial hyperaldosteronism type I mapping; high concordance for aldosterone, 18-oxocortisol, hypokalemia, and dexamethasone suppression.
123	HSD11B2-related 11-beta-Hydroxysteroid dehydrogenase 2 deficiency	CANDIDATE	False-positive HSD17B3 DSD candidate; HSD11B2 apparent mineralocorticoid excess is a true local disease gap.
124	H6PD-related Hexose-6-phosphate dehydrogenase deficiency	MAPPED	Correct cortisone reductase deficiency mapping, specifically the H6PD/apparent CRD subtype; IEMbase adds THF/THE-ratio and ACTH/androgen detail.
125	CYP17A1-related 17,20-Lyase deficiency	UNMAPPED	Partial false negative to the local CYP17A1 CAH branch, but isolated 17,20-lyase deficiency should remain distinct from combined 17A-OHD coverage.
126	HSD17B3-related 17-beta-Hydroxysteroid dehydrogenase deficiency	MAPPED	Correct 46,XY HSD17B3 DSD mapping; DisMech is clinically richer and IEMbase adds explicit gonadotropin elevation.
127	SRD5A2-related Steroid 5-alpha-reductase type 2 deficiency	CANDIDATE	Accept generated candidate as correct SRD5A2 DSD mapping; IEMbase adds urinary 5-alpha/5-beta metabolite-ratio detail.
128	CYP19A1-related Aromatase deficiency	MAPPED	Correct aromatase deficiency mapping; DisMech is richer for estrogen deficiency, androgen excess, bone, metabolic, and treatment coverage.
129	AR-related Androgen receptor deficiency	MAPPED	Correct current CAIS target, with a broader AIS label-scope caveat; IEMbase adds normal DHT as a useful differentiator.
130	ESR1-related Estrogen receptor deficiency	UNMAPPED	True local disease gap; do not map estrogen resistance to aromatase deficiency, ESR1 cancer contexts, PMDD, or osteoporosis-risk content.

Batch 13

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
131	PGR-related Progesterone receptor deficiency	UNMAPPED	True local gap; PGR mentions in tumors/endometriosis are signaling context, not monogenic progesterone receptor deficiency.
132	NR3C1-related Glucocorticoid receptor deficiency	UNMAPPED	True local gap; do not map glucocorticoid resistance to familial hyperaldosteronism or CSCR glucocorticoid-risk context.
133	NR3C2-related Mineralocorticoid receptor deficiency	UNMAPPED	True local gap for pseudohypoaldosteronism type 1; high renin/aldosterone with salt wasting is not familial hyperaldosteronism.
134	BCAT2-related Branched-chain aminotransferase 2 deficiency	UNMAPPED	True local gap; MSUD is pathway context only and ornithine aminotransferase deficiency is a false lexical candidate.
135	ACAD8-related Isobutyryl-CoA dehydrogenase deficiency	MAPPED	Correct IBDD mapping with strong local coverage; IEMbase reinforces C4 acylcarnitine, isobutyrylglycine, free carnitine, asymptomatic course, anemia, and cardiomyopathy.
136	ALDH6A1-related Methylmalonate semialdehyde dehydrogenase deficiency	UNMAPPED	True local gap; SSADH/ALDH5A1 is a false semialdehyde-dehydrogenase neighbor and HIBCH is only valine-pathway context.
137	LTC4S-related Leukotriene C4 synthase deficiency	UNMAPPED	True local gap; generated HMG-CoA synthase neighbor is a synthase lexical false positive, not leukotriene biosynthesis disease.
139	DPEP1-related Dipeptidase deficiency	UNMAPPED	True local gap for cystinylglycinuria; do not map to cystinuria or other cystine-transporter disease.
140	ADSL-related Adenylosuccinate lyase deficiency	MAPPED	Correct ADSL mapping with strong local coverage; IEMbase adds specimen-specific SAICA riboside/succinyladenosine detail and cerebellar hypoplasia wording to review.
141	ATIC-related AICAR transformylase-IMP cyclohydrolase deficiency	UNMAPPED	True local gap; ADSL is purine-pathway context only, and the catecholamine-synthesis candidate is false.

Batch 14

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
142	ADA-related Adenosine deaminase deficiency	MAPPED	Correct ADA-SCID subtype mapping under severe combined immunodeficiency; IEMbase adds skeletal and compartment-specific biomarker detail.
143	DGUOK-related Mitochondrial deoxyguanosine kinase deficiency	CANDIDATE	False-positive TWNK/MTDPS7 candidate; no valid local DGUOK/MTDPS3 target exists.
144	AMPD1-related Myoadenylate deaminase deficiency	UNMAPPED	True local gap; ADA deficiency is a false purine-pathway neighbor.
145	HPRT1-related Hypoxanthine guanine phosphoribosyltransferase deficiency	MAPPED	Correct Lesch-Nyhan/HPRT1 mapping; IEMbase adds granular hypoxanthine, xanthine, and AICA riboside biomarker leads.
146	APRT-related Adenine phosphoribosyl transferase deficiency	MAPPED	Correct APRT deficiency mapping with high concordance for enzyme defect, 2,8-DHA, urolithiasis, and renal injury.
147	PRPS1-related Phosphoribosyl pyrophosphate synthetase 1 deficiency	MAPPED	Correct Arts syndrome leaf mapping, with PRPS1_Deficiency_Spectrum.yaml as broader context for the CMTX5/DFN continuum.
149	PNP-related Purine nucleoside phosphorylase deficiency	UNMAPPED	True local gap; IKBKG/IMD33 is an immunodeficiency-label false positive.
150	RRM2B-related Mitochondrial ribonucleotide reductase subunit 2 deficiency	UNMAPPED	Partial false negative: local RRM2B MNGIE-like subtype exists, but no canonical MTDPS8A/8B target.
151	TPMT-related Thiopurine S-methyltransferase deficiency	UNMAPPED	Unmapped scope-review item; pharmacogenetic thiopurine intolerance should not map to GAMT deficiency.
152	UMPS-related Uridine monophosphate synthase deficiency	MAPPED	Correct hereditary orotic aciduria mapping; IEMbase adds plasma orotic acid, smear terms, and renal-row review targets.

Batch 15

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
154	NT5C3A-related Pyrimidine-5'-nucleotidase I deficiency	UNMAPPED	True local gap; hereditary orotic aciduria is a UMPS false neighbor and lead poisoning is acquired mechanism context only.
155	DHODH-related Dihydroorotate dehydrogenase deficiency	UNMAPPED	True local gap for Miller syndrome/POADS; pyruvate dehydrogenase deficiency is a broad metabolic false candidate.
156	NT5C3A-related Pyrimidine 5'-nucleotidase superactivity	UNMAPPED	True local gap distinct from NT5C3A deficiency; hereditary orotic aciduria does not cover low PRPP/increased UMP hydrolase.
157	TYMP-related Thymidine phosphorylase deficiency	AMBIGUOUS	Resolve to standalone Mitochondrial_Neurogastrointestinal_Encephalomyopathy.yaml; CIPO mitochondrial subtype is secondary context.
158	TK2-related Mitochondrial thymidine kinase 2 deficiency	CANDIDATE	False-positive MNGIE candidate; no valid local TK2/MTDPS2 target, and local TK2 SCA31 repeat context is unrelated.
159	DPYD-related Dihydropyrimidine dehydrogenase deficiency	UNMAPPED	True local gap with pharmacogenetic overlap; chemotherapy-induced diarrhea covers DPYD toxicity risk, not DPYD deficiency.
160	UPB1-related Beta-Ureidopropionase deficiency	UNMAPPED	True local gap; beta-ketothiolase deficiency is an ACAT1 isoleucine/ketolysis false candidate.
163	GCDH-related Glutaryl-CoA dehydrogenase deficiency	MAPPED	Correct GA1 mapping; high concordance, with IEMbase adding glutaconic acid and several rare phenotype review targets.
164	ASPA-related Aspartoacylase deficiency	MAPPED	Correct Canavan mapping; high concordance, with IEMbase adding CSF/plasma NAA and specific MRI/posture review targets.
165	L2HGDH-related L-2-Hydroxyglutarate dehydrogenase deficiency	MAPPED	Correct L2HGA mapping; high concordance, with IEMbase adding lysine, neonatal ammonia/lactate, CSF protein, and choreoathetosis leads.

Batch 16

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
166	D2HGDH-related D-2-Hydroxyglutarate dehydrogenase deficiency	MAPPED	Correct D-2-HGA mapping; high concordance for type I D2HGDH disease, with subtype-specific absence of cardiomyopathy noted.
167	IDH2-related mitochondrial NADP+-dependent isocitrate dehydrogenase 2 superactivity	MAPPED	Correct D-2-HGA mapping; high concordance for type II IDH2 disease, including D-2-HG accumulation and cardiomyopathy.
170	SARDH-related sarcosine dehydrogenase deficiency	UNMAPPED	True local gap; isovaleric acidemia is a false pathway-neighbor candidate.
172	ETHE1-related mitochondrial sulfur dioxygenase deficiency	UNMAPPED	True local gap; chronic traumatic encephalopathy is a lexical false candidate, not ethylmalonic encephalopathy.
173	OGDH-related alpha-ketoglutarate dehydrogenase deficiency	UNMAPPED	True local gap; D-2-HGA is an alpha-ketoglutarate pathway-neighbor false candidate.
174	FH-related fumarate hydratase deficiency	MAPPED	Generated mapping to familial hyperaldosteronism type I is false via FH1; local fumarase deficiency target is missing.
175	OXCT1-related succinyl-CoA:3-oxoacid CoA transferase deficiency	UNMAPPED	True local gap; lipoyl transferase 1 deficiency is not a SCOT/ketolysis target.
176	HMGCS2-related 3-hydroxy-3-methylglutaryl-CoA synthase deficiency	MAPPED	Correct HMGCS2 mapping; high concordance, with IEMbase adding crotonylglycine and differential acylcarnitine details.
177	MLYCD-related malonyl-CoA decarboxylase deficiency	MAPPED	Generated mapping to migraine with aura is false via MA; local MLYCD/malonic aciduria target is missing.
179	HSD3B7-related 3beta-hydroxy-Delta5-C27-steroid dehydrogenase-isomerase deficiency	UNMAPPED	False negative; resolve to Inborn_Disorder_of_Bile_Acid_Synthesis.yaml#BASD Type 1.

Batch 17

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
180	AKR1D1-related Delta4-3-oxosteroid-5beta-reductase deficiency	CANDIDATE	Accept candidate as correct BASD type 2 subtype; high concordance, with IEMbase adding granular allocholic/3-oxo bile acids and CDCA/UDCA treatment rows.
181	CYP7B1-related oxysterol 7alpha-hydroxylase deficiency	CANDIDATE	Accept candidate as correct BASD type 3 subtype; high concordance, with IEMbase adding 27-hydroxycholesterol, glucose/vitamin E, ocular, and MRI detail.
182	CYP7A1-related cholesterol 7alpha-hydroxylase deficiency	CANDIDATE	False positive to BASD type 3; CYP7A1 adult dyslipidemia/gallstone disease is a true local gap.
183	CYP27A1-related sterol 27-hydroxylase deficiency	MAPPED	Correct CTX mapping; high concordance, with IEMbase adding endocrine, cardiovascular, gallstone, and cholestane pentol glucuronide details.
184	SLC27A5-related bile acid-CoA ligase deficiency	UNMAPPED	Partial local umbrella coverage, but no valid SLC27A5 subtype; BAAT conjugation defect candidate is related but not equivalent.
185	ATP8B1-related progressive familial intrahepatic cholestasis type 1	UNMAPPED	True local gap; progressive familial heart block candidate is a lexical false positive.
186	ABCB11-related progressive familial intrahepatic cholestasis type 2	UNMAPPED	True local gap; progressive familial heart block candidate is a lexical false positive.
187	BAAT-related bile acid-CoA:aminoacid N-acyltransferase deficiency	UNMAPPED	False negative; resolve to Inborn_Disorder_of_Bile_Acid_Synthesis.yaml#Bile acid conjugation defect 1.
188	AMACR-related alpha-methylacyl-CoA racemase deficiency	MAPPED	Correct BASD type 4 mapping; high concordance, with IEMbase adding granular bile acid/fatty acid analytes and neurologic/retinal details.
189	TALDO1-related transaldolase deficiency	MAPPED	Correct transaldolase deficiency mapping; high concordance, with IEMbase adding erythronic acid, respiratory-chain/ferritin/glucose, and genital/endocrine details.

Batch 18

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
190	RPIA-related ribose-5-phosphate isomerase deficiency	UNMAPPED	True local gap; G6PD deficiency is a pentose-phosphate pathway-neighbor false candidate.
191	MVK-related mevalonate kinase deficiency (mild)	MAPPED	Correct HIDS subtype mapping; high concordance, with DisMech much richer for inflammasome mechanism and IL-1-targeted treatment.
192	DHCR7-related Smith-Lemli-Opitz syndrome	MAPPED	Correct SLOS mapping; high concordance, with IEMbase adding 8-DHC, dental/digital-whorl/photosensitivity, and renal/GI/pulmonary detail.
193	EBP-related chondrodysplasia punctata 2	UNMAPPED	True local gap; RCDP1 and tibial-metacarpal chondrodysplasia punctata are distinct from EBP/CDPX2.
194	NSDHL-related CHILD syndrome	UNMAPPED	True local gap; congenital ichthyosis is only a partial skin-overlap false candidate.
195	DHCR24-related desmosterolosis	UNMAPPED	True local gap; CAH 3B-HSD is a lexical false candidate driven by 3beta wording.
196	SC5D-related lathosterolosis	UNMAPPED	True local gap; CTX is a sterol/bile-acid pathway neighbor but not SC5D lathosterolosis.
197	LBR-related Greenberg skeletal dysplasia	UNMAPPED	True local gap; sepiapterin reductase deficiency is an unrelated false candidate.
198	POR-related cytochrome P450 oxidoreductase deficiency	MAPPED	Generated amniotic band syndrome mapping is false via ABS acronym; local HRS file is only partial Antley-Bixler/POR context.
199	ATP7A-related Menkes disease	MAPPED	Correct Menkes mapping; high concordance, with IEMbase adding copper-compartment, hypothermia, cytopenia, ocular, and arterial-rupture details.

Batch 19

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
200	ATP7A-related occipital horn syndrome	MAPPED	Correct OHS subtype mapping under Menkes disease; high concordance, with IEMbase adding diarrhea, orthostatic hypotension, and urinary-infection leads.
201	ATP7B-related Wilson disease	MAPPED	Correct Wilson disease mapping; high concordance, with IEMbase adding selected granular lab and clinical rows.
202	SLC39A4-related acrodermatitis enteropathica	UNMAPPED	True local gap; unrelated zinc-associated entries are not valid SLC39A4 disease targets.
203	HFE-related hereditary hemochromatosis type 1	UNMAPPED	False negative; resolve to Hemochromatosis.yaml#Type 1.
204	HJV-related hemojuvelin deficiency	CANDIDATE	Accept candidate as correct hemochromatosis type 2A subtype coverage.
205	Neonatal hemochromatosis	UNMAPPED	True local gap; do not conflate congenital alloimmune neonatal liver disease with hereditary hemochromatosis.
206	TF-related hereditary transferrin deficiency	UNMAPPED	True local gap; atransferrinemia is mechanistically distinct from hepcidin-deficient hemochromatosis.
208	BCS1L-related GRACILE syndrome	UNMAPPED	True local gap; CALFAN syndrome is a false-positive liver/neurodevelopmental neighbor.
209	PANK2-related pantothenate kinase 2 deficiency	MAPPED	Correct PKAN mapping; high concordance, with IEMbase adding brain-iron, eye-movement, and spiculated-red-cell review leads.
210	FMO3-related primary trimethylaminuria	UNMAPPED	True local gap; erythromelalgia is a lexical false positive and DMGDH deficiency is only a fish-odor differential.

Batch 20

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
211	DMGDH-related dimethylglycine dehydrogenase deficiency	MAPPED	Correct DMGDH mapping; high concordance, with an OMIM cross-reference discrepancy noted for later metadata review.
213	KCNJ11-related ATP-sensitive potassium channel pore-forming subunit deficiency	UNMAPPED	False negative; resolve to Congenital_Isolated_Hyperinsulinism.yaml, preferably KATP/HHF2 subtype coverage.
214	GGT1-related gamma-glutamyl transpeptidase deficiency	UNMAPPED	True local gap; LIPT1 deficiency is a mitochondrial lipoylation false candidate.
215	OPLAH-related 5-oxoprolinase deficiency	MAPPED	Correct OPLAH mapping; high concordance, with IEMbase adding renal colic and urolithiasis review leads.
216	GCLC-related gamma-glutamylcysteine synthetase deficiency	UNMAPPED	True local gap; CPS1 deficiency is a synthetase-word false candidate.
217	GSS-related glutathione synthetase deficiency, mild	UNMAPPED	True local gap; hereditary orotic aciduria is a lexical/metabolite-neighbor false candidate and OPLAH is differential context only.
218	PC-related pyruvate carboxylase deficiency	UNMAPPED	False negative; resolve to Pyruvate_Carboxylase_Deficiency_Disease.yaml.
220	PDHA1-related pyruvate dehydrogenase E1 alpha deficiency	MAPPED	Correct PDH mapping, with subtype resolution to Pyruvate_Dehydrogenase_Deficiency.yaml#E1-alpha deficiency.
221	PDHB-related pyruvate dehydrogenase E1 beta deficiency	MAPPED	Correct PDH mapping, with subtype resolution to Pyruvate_Dehydrogenase_Deficiency.yaml#E1-beta deficiency.
222	DLAT-related dihydrolipoyl transacetylase deficiency	MAPPED	Correct subtype-level PDH E2 mapping with high concordance.

Batch 21

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
223	DLD-related dihydrolipoyl dehydrogenase deficiency	MAPPED	Correct subtype-level PDH E3 mapping with high concordance.
224	PDHX-related pyruvate dehydrogenase E3-binding protein deficiency	MAPPED	Correct subtype-level PDH E3-binding protein mapping with high concordance.
225	PDP1-related pyruvate dehydrogenase phosphatase deficiency	MAPPED	Correct subtype-level PDH phosphatase mapping with high concordance.
228	CPT1A-related carnitine palmitoyltransferase 1A deficiency	CANDIDATE	Generated CPT II candidate is false; correct local target is Carnitine_Palmitoyltransferase_1A_Deficiency.yaml.
229	SLC25A20-related carnitine acylcarnitine translocase deficiency	MAPPED	Correct CACT mapping with high concordance, including severe cardiac and treatment overlap.
230	CPT2-related carnitine palmitoyltransferase 2 deficiency	CANDIDATE	Accept generated candidate as correct CPT II mapping with high concordance.
231	ACADVL-related very long-chain acyl-CoA dehydrogenase deficiency	MAPPED	Correct VLCAD mapping with high concordance; IEMbase adds C14:1 ratios and bezafibrate prompts.
232	HADHA-related trifunctional protein subunit alpha deficiency	UNMAPPED	False negative to local MTP/LCHAD coverage, but IEMbase label spans complete MTPD and isolated HADHA/LCHAD scopes.
233	HADHB-related isolated deficiency of long-chain 3-ketoacyl-CoA thiolase	UNMAPPED	Partial false negative to MTPD umbrella coverage; exact isolated HADHB/LKAT subtype remains a gap.
234	ACADM-related medium-chain acyl-CoA dehydrogenase deficiency	MAPPED	Correct MCAD mapping with high concordance and granular IEMbase biomarker detail.

Batch 22

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
235	ACADS-related short-chain acyl CoA dehydrogenase deficiency	MAPPED	Generated coronary-artery-dissection mapping is false via SCAD acronym collision; correct local target is SCAD_Deficiency.yaml.
236	HADH-related short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency	UNMAPPED	False negative to Congenital_Isolated_Hyperinsulinism.yaml#SCHAD-HI subtype coverage.
237	ETFA-related electron transfer flavoprotein alpha subunit deficiency	CANDIDATE	Accept candidate as correct MADD file-level mapping; subtype is ETFA/MADD type 2A.
239	ETFDH-related multiple acyl-CoA dehydrogenase deficiency	MAPPED	Correct MADD mapping with high concordance, especially for ETFDH/riboflavin-responsive MADD context.
241	IDUA-related alpha-iduronidase deficiency	MAPPED	Correct high-concordance MPS I mapping to Hurler_syndrome.yaml, with spectrum scope spanning Hurler-Scheie and Scheie noted.
242	IDS-related iduronate 2-sulfatase deficiency	MAPPED	Correct Hunter syndrome/MPS II mapping with high concordance.
243	SGSH-related heparan N-sulfatase deficiency	MAPPED	Correct subtype-level Sanfilippo A/MPS IIIA mapping.
244	NAGLU-related N-acetylglucosaminidase deficiency	MAPPED	Correct subtype-level Sanfilippo B/MPS IIIB mapping.
245	HGSNAT-related heparan-alpha-glucosaminide N-acetyltransferase deficiency	MAPPED	Correct subtype-level Sanfilippo C/MPS IIIC mapping, with RP73/attenuated retinal-label nuance noted.
246	GNS-related N-acetylglucosamine 6-sulfatase deficiency	MAPPED	Correct subtype-level Sanfilippo D/MPS IIID mapping.

Batch 23

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
247	GALNS-related N-acetylgalactosamine 6-sulfatase deficiency	MAPPED	Correct subtype-level Morquio A/MPS IVA mapping with high concordance.
248	GLB1-related beta-galactosidase 1 deficiency, Morquio B	UNMAPPED	False negative; resolve to Morquio_syndrome.yaml#Type B with high concordance.
249	ARSB-related N-acetylgalactosamine 4-sulfatase deficiency	MAPPED	Correct Maroteaux-Lamy/MPS VI mapping with high concordance.
250	GUSB-related beta-glucuronidase deficiency	MAPPED	Correct Sly syndrome/MPS VII mapping with high concordance and treatment-row agreement.
251	HYAL1-related hyaluronidase deficiency	MAPPED	Correct MPS IX/HYAL1 mapping; IEMbase reinforces hyaluronidase, hyaluronic acid, and normal total-GAG rows.
252	PDSS1-related prenyl diphosphate synthase subunit 1 deficiency	MAPPED	Correct PDSS1 primary CoQ10 subtype mapping, with IEMbase adding granular renal, vascular, skin, optic, and neuropathy detail.
253	PDSS2-related prenyl diphosphate synthase subunit 2 deficiency	MAPPED	Correct PDSS2 primary CoQ10 subtype mapping with high concordance.
254	COQ2-related coenzyme Q2 polyprenyltranferase deficiency	MAPPED	Correct COQ2 primary CoQ10 subtype mapping with high concordance and IEMbase-only retinal/stroke-like prompts.
255	COQ9-related coenzyme 9 deficiency	MAPPED	Correct COQ9 primary CoQ10 subtype mapping; IEMbase adds human clinical and biomarker detail plus an alternate-label typo to review.
256	COQ8A-related coenzyme Q8A (ADCK3) deficiency	MAPPED	Correct dedicated COQ8A ubiquinone-deficiency ataxia mapping; the primary CoQ10 umbrella subtype remains secondary context.

Batch 24

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
257	APTX-related aprataxin deficiency	MAPPED	Correct AOA1 subtype mapping, but IEMbase is sparse and its serum-albumin direction needs review.
258	AGA-related aspartylglucosaminidase deficiency	MAPPED	Correct aspartylglucosaminuria mapping; transplant treatment row needs local lack-of-benefit caveat.
259	FUCA1-related alpha-L-fucosidase deficiency	MAPPED	Correct fucosidosis mapping with high concordance.
260	MAN2B1-related alpha-mannosidase B deficiency	MAPPED	Correct alpha-mannosidosis mapping with high concordance.
261	MANBA-related beta-mannosidase deficiency	MAPPED	Correct beta-mannosidosis mapping; IEMbase adds granular neurologic, skeletal, ocular, and cellular prompts.
262	Alpha-N-acetylgalactosaminidase deficiency, Schindler disease type I	MAPPED	Generated type 3 target is wrong; resolve to Schindler_Disease.yaml.
263	NAGA-related alpha-N-acetylgalactosaminidase deficiency, Kanzaki disease	MAPPED	Correct Kanzaki disease/type II mapping with high concordance.
264	Alpha-N-acetylgalactosaminidase deficiency, Schindler disease type III	MAPPED	Correct NAGA_Deficiency_Type_3.yaml mapping with high concordance.
265	NEU1-related alpha-neuraminidase deficiency	MAPPED	Correct sialidosis type 1 mapping, with caution for IEMbase-only systemic rows that may reflect broader sialidosis spectrum.
267	SLC17A5-related sialin deficiency, severe	AMBIGUOUS	Resolve to Free_Sialic_Acid_Storage_Disease.yaml#Infantile Free Sialic Acid Storage Disease; standalone Salla disease is secondary context.

Batch 25

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
268	DPYS-related dihydropyrimidinase deficiency	UNMAPPED	True local gap; do not conflate with DPYD deficiency or other pyrimidine-metabolism neighbors.
269	ACAT1-related mitochondrial acetoacetyl-CoA thiolase deficiency	MAPPED	Correct beta-ketothiolase mapping with high concordance and granular IEMbase crisis-marker detail.
270	ACAT2-related cytosolic acetoacetyl-CoA thiolase deficiency	UNMAPPED	Reject weak beta-ketothiolase candidate; ACAT2/cytosolic thiolase is distinct from ACAT1/T2 disease.
272	PEX1-related peroxin 1 deficiency	CANDIDATE	Accept candidate as correct file-level Peroxisome_Biogenesis_Disorder.yaml coverage, with PEX1-specific enrichment prompts.
273	ACOX1-related peroxisomal acyl-CoA oxidase deficiency	UNMAPPED	False negative; resolve to Peroxisomal_Acyl-CoA_Oxidase_Deficiency.yaml, while reviewing generic peroxisomal lab rows before import.
274	HSD17B4-related D-bifunctional protein deficiency	MAPPED	Correct DBP mapping with high concordance; IEMbase adds ocular, skeletal, renal, and portal-hypertension prompts.
277	PEX7-related RCDP type 1	MAPPED	Correct RCDP1 mapping with high concordance; IEMbase adds cervical, infection, hearing, cardiac, and skin prompts.
278	GNPAT-related RCDP type 2	MAPPED	Correct RCDP2 subtype mapping; review IEMbase phytanic-acid directionality before import.
279	AGPS-related RCDP type 3	MAPPED	Correct RCDP3 subtype mapping; review IEMbase phytanic-acid directionality before import.
280	ABCD1-related X-linked adrenoleukodystrophy and adrenomyeloneuropathy	UNMAPPED	False negative; resolve to adrenoleukodystrophy.yaml with high concordance.

Batch 26

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
281	PHYH-related Phytanoyl-CoA hydroxylase deficiency	MAPPED	Correct Adult Refsum mapping; DisMech is stronger for treatment and mechanism, while IEMbase adds pristanic/pipecolic and craniofacial/renal review prompts.
282	DNM1L-related Dynamin-like protein 1 deficiency	UNMAPPED	True local gap; reject the weak PDH candidate because DNM1L mitochondrial-peroxisomal fission disease is mechanistically distinct.
284	GLB1-related Beta-galactosidase-1 deficiency, GM1 gangliosidosis	UNMAPPED	False negative to local GLB1 GM1 spectrum coverage; map across GM1 types 1, 2, and 3 rather than only the infantile file.
285	HEXB-related Beta-hexosaminidase subunit beta deficiency	UNMAPPED	False negative; resolve to Sandhoff_Disease.yaml, with IEMbase adding VEP, urinary incontinence, movement-disorder, LysoGM2, and oligosaccharide prompts.
286	HEXA-related Beta-hexosaminidase subunit alpha deficiency	MAPPED	Correct Tay-Sachs mapping; high concordance, with IEMbase adding LysoGM2/oligosaccharide prompts and hepatosplenomegaly needing caution.
287	GM2A-related GM2 activator protein deficiency	MAPPED	Correct AB variant mapping; IEMbase reinforces the preserved Hex A activity distinction and adds sparse spasticity/urinary/psychiatric prompts.
288	GBA-related Glucocerebrosidase deficiency	MAPPED	Correct Gaucher mapping with high concordance; IEMbase adds specific ERT/SRT agents and pulmonary, malignancy, hemophagocytosis, and cirrhosis prompts.
289	GALC-related Beta-galactosylceramidase deficiency	UNMAPPED	False negative; resolve to Krabbe_Disease.yaml, with IEMbase adding CSF protein, deafness, fever, and later-onset ataxia prompts.
290	ARSA-related Arylsulfatase A deficiency	MAPPED	Correct MLD mapping; IEMbase OTL-200 aligns with local atidarsagene autotemcel and adds psychiatric/gait/dysarthria/spasticity review prompts.
291	PSAP-related Combined saposin deficiency	MAPPED	Correct combined saposin deficiency mapping; note the cached IEMbase label has a source typo and treat hydrolase-assay rows as downstream cofactor-loss readouts.

Batch 27

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
292	PSAP-related Krabbe disease-like disorder due to saposin A deficiency	MAPPED	Correct saposin A/Krabbe-like mapping; IEMbase adds sensory, fever, feeding, CSF-protein, and lysogalactosylceramide prompts.
293	PSAP-related Metachromatic leukodystrophy-like disorder due to saposin B deficiency	CANDIDATE	Reject saposin C candidate; local MLD file is partial phenotype context, but a saposin B/PSAP-specific target is still missing.
294	PSAP-related Gaucher disease-like disorder due to saposin C deficiency	MAPPED	Correct saposin C/Gaucher-like mapping; IEMbase reinforces normal beta-D-glucosidase with elevated glucosylsphingosine and chitotriosidase.
296	GLA-related Alpha-galactosidase A deficiency	MAPPED	Correct Fabry mapping with high concordance; IEMbase adds agent-specific treatment rows and airway/pulmonary/malignancy/thyroid review prompts.
297	ASAH1-related Acid ceramidase deficiency, inflammatory phenotype	MAPPED	Correct Farber mapping with high concordance; IEMbase adds hepatosplenic, reflex, lung, lymph-node, CSF-protein, and C26-ceramide prompts.
298	SMPD1-related Acid sphingomyelinase deficiency	CANDIDATE	Generated type A candidate is valid but incomplete; split spectrum record across local Niemann-Pick type A and type B entries.
299	GNPTAB-related UDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency	MAPPED	Correct mucolipidosis II mapping; IEMbase adds neuroimaging, otitis, hepatosplenic, and compartment-specific enzyme/GAG/oligosaccharide prompts.
300	GNPTG-related UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma deficiency	UNMAPPED	False negative; resolve to GNPTG-Mucolipidosis.yaml, with IEMbase adding serum/leukocyte assay and urinary substrate prompts.
301	SUMF1-related Formyl-glycine generating enzyme deficiency	AMBIGUOUS	Resolve generated subtype ambiguity to file-level Multiple_Sulfatase_Deficiency.yaml; IEMbase adds selected MRI, cardiopulmonary, gingival, speech, and gait prompts.
302	LIPA-related Lysosomal acid lipase deficiency	MAPPED	Generated CESD mapping is incomplete; split spectrum record across Wolman_Disease.yaml and Cholesteryl_Ester_Storage_Disease.yaml.

Batch 28

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
303	NPC1-related Niemann-Pick disease type C1	MAPPED	Correct NPC1 subtype mapping; local coverage is strong, with IEMbase adding chitotriosidase, cholestane-triol, filipin-test, hemophagocytosis, and rare liver-tumor review prompts.
304	NPC2-related Niemann-Pick disease type C2	MAPPED	Correct NPC2 subtype mapping; local coverage is strong, with IEMbase adding diagnostic biomarker rows and no NPC2-specific HPbCD treatment signal.
305	PPT1-related Palmitoyl-protein thioesterase 1 deficiency	MAPPED	Correct NCL1 mapping; local mechanism coverage is strong but lacks PPT1 enzyme assay and granular MRI/electrophysiology/retinal rows.
306	TPP1-related Tripeptidyl-peptidase 1 deficiency	MAPPED	Correct NCL2 mapping; high concordance for phenotype and cerliponase alfa, with IEMbase adding TPP1 assay and granular imaging/electrophysiology prompts.
307	CLN3-related Lysosomal transmembrane protein deficiency	MAPPED	Correct NCL3 mapping; DisMech covers core juvenile Batten disease while IEMbase adds psychiatric, movement, cardiac, cytologic, and electrophysiology review prompts.
308	CLN6-related Kufs disease	MAPPED	Correct adult NCL/Kufs mapping; local CLN6 adult coverage is strong, with IEMbase adding extrapyramidal, behavioral, and spasticity prompts.
309	DNAJC5-related Kufs disease	MAPPED	Correct adult NCL/Kufs mapping; DNAJC5 is covered genetically and mechanistically, but future gene-specific CLN4 subtype resolution could improve precision.
310	CLN5-related Lysosomal protein deficiency	UNMAPPED	True missing standalone NCL5 target; broad NCL umbrella provides only partial shared context.
311	CLN6-related Lysosomal protein deficiency	UNMAPPED	True missing CLN6 late-infantile target; do not map to adult CLN6 Kufs disease despite shared gene.
312	MFSD8-related CLN7 Turkish variant	MAPPED	Correct NCL7 mapping with high concordance, including Milasen; IEMbase adds granular MRI, optic, retinal, speech, and electrophysiology prompts.

Batch 29

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
313	CLN8-related Lysosomal protein deficiency	UNMAPPED	True missing standalone NCL8/CLN8 target; broad NCL umbrella has CLN8 gene and shared phenotype context only.
315	CTSD-related Cathepsin D deficiency	UNMAPPED	True missing standalone NCL10/CTSD target; broad NCL umbrella has CTSD context but lacks CTSD enzyme-assay and congenital phenotype detail.
316	MMADHC-related Methylmalonic aciduria and homocystinuria, cblD type	UNMAPPED	False negative; resolve to the cobalamin umbrella's cblD subtype, with combined cblD-MMA/HC biochemical detail as enrichment.
317	MSMO1-related Sterol C4-methyloxidase deficiency	UNMAPPED	True local gap; cerebrotendinous xanthomatosis is a false sterol-pathway neighbor.
318	CYP51A1-related Lanosterol demethylase deficiency	UNMAPPED	True local gap; COA3-related COX deficiency is a lexical false-positive candidate.
319	CTSA-related Cathepsin A deficiency	MAPPED	Correct galactosialidosis mapping; local coverage is strong but IEMbase adds enzyme, oligosaccharide, renal, cardiac, and cellular review prompts.
320	SCARB2-related Glucocerebrosidase receptor deficiency	UNMAPPED	True missing SCARB2/AMRF target; reject Gaucher disease despite glucocerebrosidase-adjacent terminology and preserve normal beta-D-glucosidase as differential detail.
321	PMM2-related Phosphomannomutase 2 deficiency (CDG)	UNMAPPED	True PMM2-CDG gap; other gene-specific CDG files are context only, not valid targets.
322	MPI-related Phosphomannose isomerase deficiency (CDG)	UNMAPPED	True MPI-CDG gap with distinctive protein-losing enteropathy, hypoglycemia, liver, thrombosis, and coagulation-marker signals.
323	ALG6-related Glucosyltransferase 1 deficiency (CDG)	UNMAPPED	True ALG6-CDG gap; do not map to ALG12/ALG9 or other CDG entries based only on shared type I CDG features.

Batch 30

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
324	ALG3-related Mannosyltransferase 6 deficiency (CDG)	CANDIDATE	Reject ALG12-CDG candidate; true ALG3-CDG gap with Man5GlcNAc2, hypoglycemia, and coagulation/protein biochemical prompts.
325	ALG12-related Mannosyltransferase 8 deficiency (CDG)	MAPPED	Correct ALG12-CDG mapping; IEMbase adds granular imaging, ocular/hearing, GI, endocrine, prenatal, and Man7 review prompts.
326	ALG8-related Glucosyltransferase 2 deficiency (CDG)	UNMAPPED	Reject ALG8-related ADPLD gene-collision candidate; true recessive ALG8-CDG gap.
327	ALG2-related Mannosyltransferase 2 deficiency (CDG)	CANDIDATE	Reject ALG12-CDG candidate; true ALG2-CDG gap, with local CMS glycosylation context only for the neuromuscular branch.
328	DPAGT1-related UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (CDG)	UNMAPPED	Local CMS covers DPAGT1 neuromuscular context, but canonical multisystem DPAGT1-CDG remains a disease gap.
329	ALG1-related Mannosyltransferase 1 deficiency (CDG)	CANDIDATE	Reject ALG12-CDG candidate; true ALG1-CDG gap with early GlcNAc2 lipid-linked and renal/cardiac prompts.
330	ALG9-related Mannosyltransferase 7-9 deficiency (CDG)	MAPPED	Correct ALG9-CDG mapping with high concordance, including type I transferrin and Man6/Man8 lipid-linked biochemical signals.
331	RFT1-related Flippase of Man5GlcNAc2-PP-Dol deficiency (CDG)	UNMAPPED	Reject X-linked SCID candidate; true RFT1-CDG gap with Man5GlcNAc2, sensory, thrombotic, and coagulation prompts.
332	MGAT2-related N-acetylglucosaminyltransferase 2 deficiency (CDG)	UNMAPPED	False negative; low-score MGAT2-CDG candidate is the correct local target, with IEMbase adding granular dysmorphism, GI, and coagulation prompts.
333	GCS1-related Glucosidase 1 deficiency (CDG)	UNMAPPED	Reject Gaucher disease lexical candidate; true MOGS/GCS1-CDG gap with tetraglucoside, immunoglobulin, respiratory, and neurologic prompts.

Batch 31

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
334	TUSC3-related oligosaccharyltransferase subunit deficiency (CDG)	UNMAPPED	True TUSC3-CDG gap; reject GHIS/IGFALS candidate because short stature is not enough to map across mechanisms.
335	SRD5A3-related steroid 5-alpha-reductase 3 deficiency (CDG)	CANDIDATE	Reject SRD5A2 46,XY DSD candidate; true SRD5A3-CDG gap with ocular, skin, brain, dolichol, and coagulation prompts.
336	DPM1-related GDP-Man:Dol-P mannosyltransferase deficiency (CDG)	UNMAPPED	Dystroglycanopathy has partial DPM1 pathway context, but standalone DPM1-CDG remains a local disease gap.
337	MPDU1-related Dol-P-Man utilization 1 deficiency (CDG)	MAPPED	Correct MPDU1-CDG mapping with high concordance; IEMbase adds growth-hormone, cerebral-atrophy, antithrombin, and Man5/Man9 prompts.
338	B4GALT1-related beta-1,4-galactosyltransferase 1 deficiency (CDG)	UNMAPPED	Reject GM1 gangliosidosis lexical candidate; true B4GALT1-CDG gap with hypogalactosylated transferrin and coagulation prompts.
339	GNE-related UDP-GlcNAc epimerase-kinase deficiency (CDG)	UNMAPPED	Reject Galactosemia/epimerase candidate; true GNE myopathy/CDG gap with rimmed-vacuole and N-acetylmannosamine prompts.
340	SLC35A1-related CMP-sialic acid transporter deficiency (CDG)	UNMAPPED	Reject SLC35A2-CDG family-neighbor candidate; true SLC35A1-CDG gap with macrothrombocytopenia and platelet-sialylation prompts.
341	SLC35C1-related GDP-fucose transporter deficiency (CDG)	UNMAPPED	Reject SLC35A2 and fucosidosis neighbors; true SLC35C1-CDG/LAD-II gap with neutrophil-rolling and fucose-treatment prompts.
342	DOLK-related dolichol kinase deficiency (CDG)	UNMAPPED	False negative; resolve to DK1-congenital_disorder_of_glycosylation.yaml, with IEMbase adding digital-necrosis and delayed-puberty prompts.
343	COG7-related conserved oligomeric Golgi complex subunit 7 deficiency (CDG)	MAPPED	Correct COG7-CDG mapping with high concordance; IEMbase adds renal/urinary, bilirubin/CK, and detailed glycan-fraction prompts.

Batch 32

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
344	COG1-related conserved oligomeric Golgi complex subunit 1 deficiency (CDG)	MAPPED	Correct COG1-CDG mapping with high concordance; IEMbase adds cardiomyopathy, hearing, hepatic/splenic, platelet, and glycan-fraction prompts.
345	COG8-related conserved oligomeric Golgi complex subunit 8 deficiency (CDG)	CANDIDATE	Reject COG1-CDG fuzzy candidate; true COG8-CDG gap despite shared COG-complex/type II CDG biology.
346	ATP6V0A2-related cutis laxa type IIA (CDG)	UNMAPPED	True ATP6V0A2-CDG/cutis laxa gap; reject Peeling Skin Syndrome and preserve the source spelling variant ATP6VOA2.
347	EXT1-related exostosin 1 deficiency (CDG)	UNMAPPED	True EXT1 multiple cartilaginous exostoses gap; reject Multiple Synostoses Syndrome and treat chondrosarcoma as downstream context only.
348	EXT2-related exostosin 2 deficiency (CDG)	UNMAPPED	True EXT2 multiple cartilaginous exostoses gap; reject Multiple Synostoses Syndrome and verify sparse neurodevelopmental rows before import.
349	B4GALT7-related beta-1,4-galactosyltransferase 7 deficiency (CDG)	UNMAPPED	False negative; resolve to the local spEDS-B4GALT7 subtype under spondylodysplastic Ehlers-Danlos syndrome.
350	GALNT3-related hyperphosphatemic familial tumoral calcinosis	UNMAPPED	True GALNT3 tumoral calcinosis gap; reject brain-calcification candidate and retain phosphate-lowering treatment prompts.
351	SLC35D1-related UDP-glucuronic acid/UDP-GalNAc transporter deficiency (CDG)	MAPPED	Correct Schneckenbecken dysplasia mapping with high concordance; IEMbase adds CDG framing and normal sialotransferrins.
352	POMT1-related O-mannosyltransferase 1 deficiency (CDG)	UNMAPPED	False negative; resolve to the POMT1/MDDG1 context in Dystroglycanopathy.yaml.
353	POMT2-related O-mannosyltransferase 2 deficiency (CDG)	UNMAPPED	False negative; resolve to the POMT2/MDDG2 context in Dystroglycanopathy.yaml.

Batch 33

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
354	POMGNT1-related O-Mannose beta-1,2-N-acetyglucosaminyltransferase deficiency (CDG)	UNMAPPED	False negative; resolve to the POMGNT1/MDDG3 context in Dystroglycanopathy.yaml.
358	LFNG-rerlated O-Fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (CDG)	UNMAPPED	False negative; resolve to Spondylocostal_Dysostosis.yaml LFNG/SCDO3 context and preserve the source-label typo only as source metadata.
359	B3GALTL-related O-Fucose-specific beta-1,3-N-glucosyltransferase deficiency (CDG)	UNMAPPED	True B3GLCT/Peters plus syndrome gap; reject Gaucher disease and phenotype-only anterior-segment neighbors.
360	ST3GAL5-related Lactosylceramide alpha-2,3-sialyltransferase deficiency (CDG)	MAPPED	Correct GM3 synthase deficiency mapping with high concordance; review IEMbase ORPHA:370938 versus local ORPHA:370933.
361	PIGM-related Phosphatidylinositolglycan, class M, deficiency (CDG)	UNMAPPED	True PIGM-CDG/GPI anchor deficiency gap; reject MHC class II deficiency and retain thrombosis/GPI-flow/sodium phenylbutyrate prompts.
362	PRPS1-related Phosphoribosyl pyrophosphate synthetase 1 superactivity	CANDIDATE	Accept the PRPS1 Superactivity candidate as the correct local target with high concordance.
363	IMPDH1-related Inosine-5'-monophosphate dehydrogenase deficiency	CANDIDATE	Reject GUCY2D retinopathy candidate; true IMPDH1 RP10/LCA11 gap despite shared retinal dystrophy phenotype.
364	XDH-related Xanthine oxidase deficiency	UNMAPPED	True XDH xanthinuria type I gap; reject chronic granulomatous disease and preserve xanthine/hypoxanthine/uric-acid prompts.
367	LDLR-related Familial hypercholesterolemia heterozygous (LDLR)	UNMAPPED	False negative; resolve to Familial_Hypercholesterolemia.yaml, heterozygous FH/LDLR branch.
368	APOB-related Familial defective apolipoprotein B	UNMAPPED	False negative; resolve to Familial_Hypercholesterolemia.yaml, APOB-LDLR binding-defect branch, and verify fibrates before import.

Batch 34

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
369	PCSK9-related Proprotein convertase superactivity	UNMAPPED	False negative; resolve to Familial_Hypercholesterolemia.yaml, PCSK9 gain-of-function branch.
370	LDLRAP1-related Autosomal recessive hypercholesterolemia (ARH)	UNMAPPED	False negative; resolve to Familial_Hypercholesterolemia.yaml, LDLRAP1-related LDL uptake defect/autosomal recessive FH branch.
371	MTTP-related Microsomal triglyceride transfer protein deficiency	MAPPED	Correct abetalipoproteinemia mapping with high concordance; IEMbase adds biopsy, prothrombin-ratio, HDL, and reflex wording prompts.
372	APOB-related Apolipoprotein B deficiency	MAPPED	Generated abetalipoproteinemia mapping is over-broad; APOB familial hypobetalipoproteinemia type 1 is a separate local gap.
373	PCSK9-related Proprotein convertase deficiency with low LDL	UNMAPPED	True local gap or scope-review item; do not map opposite-direction PCSK9 loss-of-function disease to FH gain-of-function coverage.
374	ANGPTL3-related Angiopoietin-like 3 deficiency	MAPPED	Generated abetalipoproteinemia mapping is a false positive; ANGPTL3 combined familial hypolipidemia is a separate local gap.
375	CETP-related Cholesteryl ester transfer protein deficiency	UNMAPPED	True CETP deficiency gap; reject cholesteryl ester storage disease lexical candidate.
376	LIPC-related Hepatic lipase deficiency	UNMAPPED	True LIPC hepatic lipase deficiency gap; reject hepatic veno-occlusive disease lexical candidate.
377	SCARB1-related Scavenger receptor B1 deficiency	UNMAPPED	True SCARB1/SR-BI deficiency gap; reject triple-negative breast cancer candidate.
378	ABCA1-related Tangier disease	MAPPED	Correct Tangier disease mapping with high concordance; IEMbase adds concise orange tonsil, HDL, triglyceride, and ApoA-I prompts.

Batch 35

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
379	APOA1-related Apolipoprotein A-I deficiency	UNMAPPED	True APOA1 deficiency gap; do not reuse Tangier disease just because low HDL/ApoA-I vocabulary overlaps.
380	LCAT-related Familial lecithin cholesterol acyl transferase deficiency	UNMAPPED	True LCAT deficiency gap; reject lipoyl transferase 1 as a lexical false-positive candidate.
381	LPL-related Lipoprotein lipase deficiency	UNMAPPED	False negative; resolve to Familial_Chylomicronemia_Syndrome.yaml, with LPL/familial hyperchylomicronemia as the relevant branch.
382	CLN8-related Northern epilepsy variant	UNMAPPED	True CLN8-EPMR subtype gap; broad NCL context is useful but not an exact Northern epilepsy target.
383	ALG11-related Mannosyltransferase 4-5 deficiency (CDG)	UNMAPPED	True ALG11-CDG gap; reject ALG12-CDG as a type I CDG family-neighbor candidate.
384	MAGT1-related Magnesium transporter 1 deficiency (CDG)	UNMAPPED	True MAGT1/XMEN-CDG gap; reject GSD I/GSD Ib and keep EBV-susceptibility mentions as differential context only.
385	CHSY1-related Chondroitin sulfate synthase 1 deficiency (CDG)	MAPPED	Correct Temtamy preaxial brachydactyly mapping with high concordance; preserve the source spelling variant as source metadata.
386	PIGY-related Phosphatidylinositolglycan, class V, deficiency (CDG)	UNMAPPED	True PIGY GPI-anchor deficiency gap; reject CHIME/PIGL as a pathway-neighbor candidate.
387	DPM3-related GDP-Man:Dol-P mannosyltransferase 3 deficiency (CDG)	UNMAPPED	False negative; resolve to Dystroglycanopathy.yaml#DPM3-related dystroglycanopathy, with CDG biochemical enrichment prompts.
388	COG5-related Conserved oligomeric Golgi complex subunit 5 deficiency (CDG)	CANDIDATE	Reject COG1-CDG candidate; true COG5-CDG gap, with COG-complex/type II CDG context only.

Batch 36

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
389	COG6-related Component of COG complex 6 deficiency (CDG)	UNMAPPED	True COG6-CDG gap; reject COX14-related COX deficiency and use COG-complex/type II CDG files only as context.
390	TRIP11-related Achondrogenesis type IA (CDG)	UNMAPPED	True TRIP11/GMAP210-CDG gap; reject COL2A1 achondrogenesis type II despite lethal skeletal overlap.
391	SEC23B-related Congenital dyserythropoietic anemia type 2 (CDG)	CANDIDATE	Accept candidate as correct subtype mapping to Congenital_Dyserythropoietic_Anemia.yaml#CDA II.
392	SLC19A3-related Thiamine transporter 2 deficiency	MAPPED	Correct biotin-thiamine-responsive basal ganglia disease mapping with high concordance.
393	SLC25A19-related Mitochondrial thiamine pyrophosphate transporter deficiency	UNMAPPED	True SLC25A19 gap; reject GSD I and keep SLC19A3/BTBGD only as thiamine/basal-ganglia context.
395	ALDH18A1-related Delta-1-pyrroline-5-carboxylate synthase deficiency, cutis laxa phenotype	MAPPED	Correct ALDH18A1/P5CS spectrum mapping; IEMbase adds ARCL3A-specific skeletal, ocular, vascular, and brain prompts.
397	NOGENE-related Pearson Syndrome	UNMAPPED	False negative; resolve to Pearson_Syndrome.yaml, not pancreatic agenesis.
398	NOGENE-related Kearns Sayre Syndrome	UNMAPPED	False negative; resolve to Kearns-Sayre_Syndrome.yaml.
402	PRICKLE3-related Leber Hereditary Optic Neuropathy, LHON	UNMAPPED	True PRICKLE3-LHON gap; reject congenital insensitivity to pain and do not substitute Leber congenital amaurosis files.
406	MT-TT-related Mitochondrial tRNA(Thr) deficiency	UNMAPPED	True MT-TT/LIMM gap; reject reversible MT-TE infantile COX deficiency as a tRNA-neighbor candidate.

Batch 37

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
407	MT-TE-related Mitochondrial Myopathy with Diabetes Mellitus	UNMAPPED	True MT-TE m.14709T>C diabetes-myopathy gap; reject reversible infantile MT-TE/COX deficiency despite shared gene.
408	MT-TE-related Mitochondrial tRNA(Glu) deficiency	UNMAPPED	False negative; resolve to Reversible_Infantile_Cytochrome_c_Oxidase_Deficiency.yaml.
411	POLG-related Mitochondrial DNA polymerase gamma catalytic subunit deficiency 4A	CANDIDATE	True POLG Alpers-Huttenlocher/MTDPS4A gap; reject MNGIE and use SANDO only as POLG-spectrum context.
416	OPA1-related Childhood-onset optic atrophy type 1	UNMAPPED	Partial OPA1 context in DOA-plus file, but pure childhood/juvenile OPA1 optic atrophy remains an exact gap or lump/split decision.
420	POLG-related Spinocerebellar Ataxia with Epilepsy, included (SCAE, included)	MAPPED	Correct SANDO mapping with high concordance; review inheritance discordance before import.
421	OPA1-related Optic Atrophy 1 and Deafness	UNMAPPED	False negative; resolve to Autosomal_Dominant_Optic_Atrophy_Plus.yaml, with Behr/recessive subtype caveats.
425	LRPPRC-related Leigh Syndrome with French-Canadian Ethnicity	UNMAPPED	False negative; resolve to the French-Canadian LRPPRC subtype in Leigh_Syndrome.yaml.
426	ISCU-related Hereditary Myopathy with Lactic Acidosis	UNMAPPED	True ISCU/HML Fe-S myopathy gap; reject CMT/HNPP neuropathy candidate.
436	GFM1-related Mitochondrial elongation factor G1 deficiency	UNMAPPED	True GFM1/COXPD1 mitoribosome/translation gap; reject mitochondrial trifunctional protein deficiency.
437	MRPS16-related Mitochondrial ribosomal small subunit 16 deficiency	UNMAPPED	True MRPS16/COXPD2 neonatal combined-OXPHOS gap; reject HMG-CoA synthase deficiency.

Batch 38

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
438	ACAD9-related Acyl-CoA Dehydrogenase 9 deficiency	UNMAPPED	False negative; resolve to ACAD9_Deficiency.yaml and reject glutaric acidemia type 1.
439	TSFM-related Mitochondrial elongation factor Ts deficiency	UNMAPPED	True TSFM/COXPD3 local gap; reject beta-ketothiolase deficiency.
440	TUFM-related Mitochondrial elongation factor Tu deficiency	UNMAPPED	True TUFM/COXPD4 local gap; reject mitochondrial trifunctional protein deficiency.
441	MRPS22-related Mitochondrial ribosomal small subunit 22 deficiency	UNMAPPED	True MRPS22/COXPD5 neonatal combined-OXPHOS gap; reject HMG-CoA synthase deficiency.
442	AIFM1-related X-Linked Mitochondrial Myopathy	UNMAPPED	True AIFM1 COXPD6 mitochondrial myopathy gap; reject DFNX hearing loss as an exact mapping.
443	C12ORF65-related Mitochondrial release factor deficiency	UNMAPPED	True C12ORF65/MTRFR COXPD7/SPG55 gap; reject ALDH18A1 spastic-paraplegia neighbor.
444	PUS1-related Pseudouridine synthase 1 deficiency	MAPPED	Correct PUS1/MLASA1 mapping with high concordance; IEMbase adds mtDNA depletion and dysmorphic-feature prompts.
445	TRMU-related tRNA 5-methylaminomethyl-2-thiouridylate-methyltransferase deficiency	UNMAPPED	Partial false negative/context case: local RIRCD captures TRMU/cysteine context, but dedicated TRMU transient infantile liver failure remains a gap.
446	DARS2-related Mitochondrial aspartyl-tRNA synthetase deficiency	UNMAPPED	True DARS2/LBSL gap; reject HMG-CoA synthase deficiency and do not substitute EIF2B leukodystrophy.
451	SDHA-related Succinate dehydrogenase subunit A deficiency	UNMAPPED	True SDHA/complex II deficiency gap; reject pyruvate dehydrogenase E1-beta and keep Leigh syndrome as phenotype context only.

Batch 39

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
463	SLC25A3-related Mitochondrial phosphate carrier deficiency	UNMAPPED	True SLC25A3 mitochondrial phosphate carrier gap; reject HMG-CoA synthase deficiency.
466	SLC25A38-related Mitochondrial glycine transporter deficiency	UNMAPPED	True SLC25A38 sideroblastic anemia type 2 gap; reject primary carnitine deficiency and do not substitute MLASA/Pearson context.
467	TIMM8A-related Mohr-Tranebjaerg syndrome	UNMAPPED	True TIMM8A/Mohr-Tranebjaerg deafness-dystonia gap; ignore unrelated MTS acronym hits.
468	UCP1-3-related Uncoupling protein deficiency	UNMAPPED	True UCP1-3 uncoupling-protein gap or scope-review item; reject PDH E3-binding protein deficiency.
471	MT-RNR1-related Mitochondrial ribosomal RNA 12S deficiency	UNMAPPED	True MT-RNR1 aminoglycoside-induced deafness gap; reject mitochondrial trifunctional protein deficiency.
473	GALT-related Galactose-1-phosphate uridyltransferase deficiency (CDG)	MAPPED	Correct classic galactosemia/GALT mapping with high concordance; verify several extra urinary, imaging, and liver-tumor prompts before import.
474	GALK1-related Galactokinase deficiency (CDG)	UNMAPPED	False negative; resolve to Galactosemia.yaml#Galactokinase Deficiency.
475	GALE-related Galactose epimerase deficiency (CDG)	UNMAPPED	False negative; resolve to Galactosemia.yaml#Epimerase Deficiency.
476	KHK-related Hepatic fructokinase deficiency	UNMAPPED	True KHK essential fructosuria gap or low-priority scope-review item; reject essential thrombocythemia and do not map to ALDOB HFI.
477	ALDOB-related Aldolase B deficiency (CDG)	MAPPED	Correct hereditary fructose intolerance mapping with high concordance; IEMbase adds glycan, coagulation, electrolyte, lipid, uric-acid, and urinary glycerol prompts.

Batch 40

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
478	LAMP2-related Lysosome-associated membrane protein 2 deficiency	MAPPED	Correct Danon disease mapping with high concordance; IEMbase adds Pompe-differentiating normal alpha-glucosidase rows plus EEG/ocular/lymphocyte prompts.
479	SLC5A2-related Sodium-glucose cotransporter 2 deficiency	UNMAPPED	False negative; resolve to Familial_Renal_Glucosuria.yaml#SLC5A2-Related, reject GSD I, and preserve the inheritance discrepancy for review.
480	SLC2A1-related Glucose transporter 1 deficiency	UNMAPPED	False negative; resolve to GLUT1_Deficiency_Syndrome.yaml, reject SLC35A2-CDG, and review triheptanoin/hemolytic-anemia additions.
481	SLC2A2-related Glucose transporter 2 deficiency	UNMAPPED	False negative; resolve to Fanconi-Bickel_Syndrome.yaml, reject SLC35A2-CDG, and review renal/hepatic complication enrichments.
482	SLC5A1-related Intestinal sodium-glucose cotransporter 1 deficiency	UNMAPPED	False negative; resolve to Glucose-Galactose_Malabsorption.yaml and reject GSD I as a carbohydrate-metabolism neighbor.
483	FBP1-related Fructose-1,6-bisphosphatase deficiency	UNMAPPED	True FBP1 deficiency gap; reject hereditary fructose intolerance despite fructose/hypoglycemia overlap.
484	G6PC-related Glucose-6-phosphatase deficiency	MAPPED	Correct subtype mapping to Glycogen_Storage_Disease_Type_I.yaml#GSD Ia (glucose-6-phosphatase deficiency).
485	SLC37A4-related Glucose-6-phosphate transporter deficiency (CDG)	CANDIDATE	Accept as covered by Glycogen_Storage_Disease_Type_I.yaml#GSD Ib (glucose-6-phosphate transporter deficiency) rather than only broad GSD I.
486	GAA-related Alpha-glucosidase deficiency	MAPPED	Correct Pompe disease mapping with high concordance; IEMbase adds EEG, orthopnea, taurodontism, and compartment-specific enzyme-assay prompts.
487	AGL-related Amylo-1,6-glucosidase (debrancher) deficiency	UNMAPPED	False negative; resolve to Cori_Forbes_Disease.yaml and improve alias matching for GSD III / Cori-Forbes / limit dextrinosis.

Batch 41

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
488	GBE1-related Glycogen branching enzyme deficiency	MAPPED	Correct GSD IV mapping with high concordance; review compartment-specific enzyme testing, coagulation, diet wording, and ORPHA identifier differences before import.
489	PYGM-related Muscle glycogen phosphorylase deficiency	CANDIDATE	Reject GSD I candidate; true PYGM/McArdle disease / GSD V gap, with exercise-test lactate, second wind, myoglobinuria, creatine, and sucrose prompts.
490	PYGL-related Liver glycogen phosphorylase deficiency	CANDIDATE	Reject GSD I candidate; true PYGL/Hers disease / GSD VI gap, with normal lactate/uric acid and liver phosphorylase prompts.
491	PFKM-related Muscle phosphofructokinase deficiency	MAPPED	Correct Tarui disease / GSD VII mapping with high concordance; review gallstones, jaundice, second wind, and ammonia-profile wording before import.
492	PHKA2-related Hepatic phosphorylase kinase alpha-2 subunit deficiency	CANDIDATE	Reject GSD I candidate; true X-linked PHKA2/GSD IXa gap, with liver phosphorylase kinase and normal lactate/uric acid prompts.
493	PGAM2-related Muscle phosphoglycerate mutase deficiency	CANDIDATE	Reject GSD I candidate; true PGAM2/DiMauro disease / GSD X gap, with muscle phosphoglycerate mutase, CK, glycogen, and myoglobin prompts.
494	SLC2A10-related L-Dehydroascorbate transporter deficiency	MAPPED	Correct arterial tortuosity syndrome mapping with high concordance; IEMbase adds arachnodactyly, facial stigmata, arterial hypertension, and joint-laxity prompts.
496	GYG1-related Muscle glycogenin 1 deficiency	CANDIDATE	Accept as covered by Glycogen_Storage_Disease_XV.yaml; consider promoting GYG1/GSD XV aliases from candidate to exact.
497	GYS2-related Hepatic glycogen synthase deficiency	CANDIDATE	Reject GSD I candidate; true GYS2/GSD 0a gap, with depleted liver glycogen, absent hepatomegaly, fasting avoidance, and protein-rich diet prompts.
498	GYS1-related Muscle glycogen synthase deficiency	CANDIDATE	Reject GSD I candidate; true GYS1/GSD 0b gap, distinct from both GSD I and GYS1-overactivity Lafora disease context.

Batch 42

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
499	LDHA-related Lactate dehydrogenase A deficiency	CANDIDATE	Reject GSD I candidate; true LDHA/GSD XI gap with LDH activity, exercise-test lactate/ammonia, myoglobinuria, and pregnancy uterine-stiffness prompts.
500	ALDOA-related Aldolase A deficiency	CANDIDATE	Reject GSD I candidate; true ALDOA/GSD XII gap with aldolase activity, hemolytic anemia, bilirubin/reticulocyte, rhabdomyolysis, and dysmorphic-feature prompts.
501	ENO3-related Enolase beta deficiency	CANDIDATE	Reject GSD I candidate; true ENO3/GSD XIII gap with muscle beta-enolase, CK, muscle glycogen, exercise intolerance, cramps, pain, and weakness prompts.
502	PGK1-related Phosphoglycerate kinase deficiency	UNMAPPED	True PGK1 phosphoglycerate kinase deficiency gap; reject GSD VII neighbor despite shared glycolytic myopathy and hemolysis features.
503	SUCLA2-related ATP-specific succinyl-CoA synthetase beta subunit deficiency	CANDIDATE	Reject MTDPS7/TWNK candidate; true SUCLA2/MTDPS5 gap with methylmalonic aciduria, succinylcarnitine, lactate, Leigh, deafness, and dystonia prompts.
504	HOGA1-related Mitochondrial 4-hydroxy-2-oxoglutarate aldolase 1 deficiency	UNMAPPED	False negative; resolve to Primary_Hyperoxaluria_Type_3.yaml, with systemic oxalosis prompts needing source review before import.
505	APOC2-related Apolipoprotein C-II deficiency	UNMAPPED	False negative; resolve to Familial_Chylomicronemia_Syndrome.yaml with APOC2 branch context and review APOC2-specific treatment rows.
506	USF1-related Familial combined hyperlipidemia	MAPPED	Correct FCHL subtype mapping to Hyperlipidemia.yaml; DisMech lacks visible USF1/Apo B-specific coverage.
507	APOE-related Apolipoprotein E deficiency	UNMAPPED	Partial hyperlipidemia and sea-blue histiocyte context only; exact APOE dysbetalipoproteinemia / type III hyperlipoproteinemia remains a local gap.
508	ABCG5-related Sitosterolemia	UNMAPPED	True ABCG5 sitosterolemia / phytosterolemia gap; do not substitute broad hyperlipidemia for plant-sterol transporter disease.

Batch 43

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
509	LPA-related elevated lipoprotein(a)	UNMAPPED	True LPA/elevated lipoprotein(a) gap; reject Tangier disease and use vascular/lipid entries only as context.
510	CYP11A1-related side-chain cleavage enzyme deficiency	UNMAPPED	True CYP11A1/P450scc steroidogenesis gap; reject nonketotic hyperglycinemia and use CAH/adrenal insufficiency only as context.
512	GSS-related glutathione synthetase deficiency, severe	UNMAPPED	True severe GSS gap; hereditary orotic aciduria is a false metabolite-neighbor candidate and OPLAH is differential context only.
513	MVK-related mevalonate kinase deficiency, severe	MAPPED	Correct mevalonic aciduria subtype mapping to Mevalonate_Kinase_Deficiency.yaml#Mevalonic Aciduria; IEMbase adds leukotriene E4 and respiratory/cytopenia prompts.
514	EBP-related chondrodysplasia punctata 2, recessive	UNMAPPED	True EBP/MEND syndrome gap; reject PEX7-related RCDP1 despite chondrodysplasia punctata/cataract overlap.
515	NSDHL-related CK syndrome	UNMAPPED	True NSDHL CK syndrome gap; reject ZC4H2-related Wieacker-Wolff syndrome as a neurodevelopmental false candidate.
521	SLC1A3-related glutamate aspartate transporter deficiency	CANDIDATE	Reject CACNA1A episodic ataxia type 2 as exact; true SLC1A3/EAAT1/EA6 transporter gap.
522	SLC6A5-related glycine transporter 2 deficiency	MAPPED	Correct hereditary hyperekplexia mapping with SLC6A5/GlyT2 concordance; IEMbase adds head-retraction and SIDS-related prompts.
523	SLC25A12-related mitochondrial aspartate-glutamate carrier deficiency	UNMAPPED	True SLC25A12/Aralar deficiency gap; reject CACNA1A-DEE42 and preserve mitochondrial biomarker/treatment prompts.
524	SLC25A22-related mitochondrial glutamate transporter deficiency	UNMAPPED	True SLC25A22/EIEE3 gap; broad undetermined EOEE is context only, not an exact gene-specific target.

Batch 44

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
525	CTNS-related nephropathic cystinosis	AMBIGUOUS	Correct local Cystinosis.yaml target; resolve to nephropathic infantile/juvenile context rather than ocular-only cystinosis.
527	LDLR-related homozygous familial hypercholesterolemia	UNMAPPED	False negative; resolve to Familial_Hypercholesterolemia.yaml#Homozygous Familial Hypercholesterolemia.
528	LCAT-related fish-eye disease	UNMAPPED	True partial LCAT / fish-eye disease gap; reject carnitine palmitoyltransferase II as a fatty-acid-oxidation false candidate.
529	SLC52A3-related Brown-Vialetto-Van Laere syndrome	CANDIDATE	Accept candidate; resolve to Brown-Vialetto-Van_Laere_Syndrome.yaml#SLC52A3/BVVL1.
530	SLC52A3-related Fazio-Londe syndrome	UNMAPPED	False negative; use Brown-Vialetto-Van_Laere_Syndrome.yaml as the riboflavin-transporter spectrum target while preserving deafness-absent scope.
531	COQ6-related coenzyme Q6 monooxygenase deficiency	UNMAPPED	False negative; resolve to Primary_Coenzyme_Q10_Deficiency.yaml#COQ6 with oto-renal CoQ10 deficiency context.
532	ETFDH-related myopathic form of CoQ10 deficiency	UNMAPPED	False negative; resolve to Multiple_Acyl-CoA_Dehydrogenase_Deficiency.yaml#ETFDH rather than a separate primary CoQ10 entry.
533	ATP7A-related distal spinal muscular atrophy type 3	UNMAPPED	False negative at spectrum level; resolve to Menkes_Disease.yaml#ATP7A-related distal motor neuropathy, not classic Menkes disease.
537	SUGCT-related glutaric aciduria type 3	CANDIDATE	Reject GCDH/GA1 candidate; true SUGCT/GA3 benign-form gap with normal 3-hydroxyglutaric acid.
542	GK-related isolated glycerol kinase deficiency	UNMAPPED	True GK/hyperglycerolemia gap; reject BCKDK as a lexical kinase-deficiency false candidate.

Batch 45

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
544	MCEE-related methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency	CANDIDATE	Broad MMA context only; do not treat as an exact MCEE mapping until an MMAE subtype or standalone MCEE target exists.
548	ABCD4-related methylmalonic aciduria and homocystinuria, cblJ type	MAPPED	Correct cblJ subtype mapping with high concordance; IEMbase adds SAM, renal/HUS, hypersegmented-neutrophil, myelopathy, and ocular prompts.
549	ADK-related adenosine kinase deficiency	MAPPED	Correct ADK mapping with high concordance; IEMbase adds adenosine, SAM/SAH, liver, coagulation, glucose, uric-acid, hearing, and neuroimaging prompts.
550	SLC33A1-related acetyl-CoA transporter deficiency	MAPPED	Correct Huppke-Brendel syndrome mapping with high concordance; IEMbase adds cerebral/cerebellar atrophy and axial-hypotonia detail.
551	MTHFD1-related 5,10-methylene-tetrahydrofolate dehydrogenase deficiency	UNMAPPED	True MTHFD1 folate one-carbon metabolism gap; reject CAH 3B-HSD as a dehydrogenase-name false candidate.
552	ABCB4-related progressive familial intrahepatic cholestasis type 3	UNMAPPED	True PFIC3 gap; reject progressive familial heart block and preserve high-GGT cholestasis, bile-acid, fibrosis, and transplant prompts.
553	SLCO1B1/SLCO1B3-related Rotor syndrome	UNMAPPED	True digenic Rotor syndrome gap; reject Bartter/porphyria context and preserve organic-anion transport and coproporphyrin I prompts.
554	ABCC2-related Dubin-Johnson syndrome	UNMAPPED	True ABCC2/Dubin-Johnson gap; reject Stevens-Johnson and porphyria candidates.
555	AKR1C2-related 3-alpha-hydroxysteroid dehydrogenase type 3 deficiency	UNMAPPED	True AKR1C2 backdoor pathway gap; reject HSD3B2 CAH despite steroid/DSD phenotype overlap.
556	GNPTAB-related mucolipidosis III alpha/beta	MAPPED	Correct ML III alpha/beta mapping with high concordance; IEMbase adds enzyme-directionality, urinary GAG/oligosaccharide, hernia, hip, and foam-cell prompts.

Batch 46

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
557	GRN-related progranulin deficiency	UNMAPPED	False negative for the recessive CLN11/NCL aspect; resolve to Neuronal_Ceroid_Lipofuscinosis.yaml#GRN, while dominant GRN-FTLD/TDP-43 remains separate context.
558	ATP13A2-related lysosomal type 5 P-type ATPase deficiency	UNMAPPED	False negative; resolve to Kufor-Rakeb_syndrome.yaml with CLN12/PARK9 alias review.
559	CTSF-related cathepsin F deficiency	UNMAPPED	False negative; resolve to Adult_Neuronal_Ceroid_Lipofuscinosis.yaml#CTSF for CLN13 / Type B Kufs disease.
560	KCTD7-related CLN14 disease	UNMAPPED	Broad PME/NCL group context only; exact KCTD7/CLN14/EPM3 coverage remains a local gap.
561	ALPL-related tissue-nonspecific alkaline phosphatase deficiency	MAPPED	Correct hypophosphatasia mapping with high concordance; review dental, respiratory, calcium/phosphate, and asfotase alfa scope.
562	OAT-related ornithine aminotransferase deficiency	MAPPED	Correct OAT/gyrate atrophy mapping with high concordance; IEMbase adds creatine/GAA, treatment, neuromuscular, imaging, and neuropathy prompts.
563	PHKA1-related muscle phosphorylase kinase deficiency	CANDIDATE	Reject GSD I candidate; true PHKA1/GSD IXd gap with muscle phosphorylase kinase, exercise-test, second-wind, CK, and myoglobin prompts.
564	PRKAG2-related phosphorylase kinase deficiency, AMP-activated	UNMAPPED	Reject MNGIE candidate; true PRKAG2 glycogen-storage cardiomyopathy / AMPK disease gap.
565	GLYCTK-related D-glycerate kinase deficiency	UNMAPPED	Reject mevalonate kinase candidate; true GLYCTK/D-glyceric acidemia gap with D-glycerate, acidosis, and severe neurodevelopmental prompts.
566	ABCC8-related ATP-sensitive potassium channel regulatory subunit deficiency	UNMAPPED	False negative; resolve to Congenital_Isolated_Hyperinsulinism.yaml#KATP-HI/ABCC8.

Batch 47

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
567	GLUD1-related glutamate dehydrogenase superactivity	MAPPED	Correct HI/HA subtype mapping to Congenital_Isolated_Hyperinsulinism.yaml#HI/HA Syndrome; IEMbase adds 2-ketoglutaric acid, EEG, and generalized-epilepsy prompts.
568	GCK-related glucokinase superactivity	UNMAPPED	False negative; resolve to Congenital_Isolated_Hyperinsulinism.yaml#GCK-HI, while source-reviewing IEMbase MODY/type 2 diabetes wording.
570	HNF4A-related MODY1 / hyperinsulinism	UNMAPPED	False negative to CHI/monogenic-diabetes context; reject FRTS4 as exact unless renal Fanconi variant-specific phenotype is present.
571	SLC16A1-related monocarboxylate transporter 1 superactivity	UNMAPPED	Broad CHI context only; reject PRPS1 superactivity and treat exact SLC16A1/HHF7 exercise-induced hyperinsulinism as a local gap.
572	UCP2-related uncoupling protein 2 deficiency	UNMAPPED	Broad CHI context only; reject pyruvate dehydrogenase deficiency and treat exact UCP2-HI as a local gap.
573	HNF1A-related MODY3	UNMAPPED	False negative to partial local coverage in Congenital_Isolated_Hyperinsulinism.yaml#HNF4A/HNF1A-HI and Diabetes_Mellitus.yaml#HNF1A; no standalone HNF1A/MODY3 entry.
574	SUCLG1-related mitochondrial DNA depletion syndrome type 9	CANDIDATE	Reject mitochondrial CIPO/MNGIE candidate; true SUCLG1/MTDPS9 gap with methylmalonic acid, lactate, Leigh, deafness, and early-death prompts.
575	SERAC1-related MEGDEL syndrome	UNMAPPED	Reject COX8A candidate; true SERAC1/MEGDEL gap with 3-methylglutaconic aciduria, deafness, Leigh-like lesions, regression, and filipin prompts.
576	TMEM70-related complex V deficiency	UNMAPPED	Reject COX11 candidate; true TMEM70 complex V assembly deficiency gap with cardiomyopathy, WPW, acidosis, pulmonary, renal, and neuroimaging prompts.
577	ACSF3-related combined malonic and methylmalonic aciduria	UNMAPPED	False negative; resolve to Combined_Malonic_and_Methylmalonic_Aciduria.yaml and reject HMG-CoA synthase candidate.

Batch 48

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
578	AP1S1-related MEDNIK syndrome	MAPPED	Correct exact mapping to MEDNIK_syndrome.yaml; IEMbase adds low serum copper/ceruloplasmin, high ASAT/ALAT and bile-acid, very-long-chain fatty-acid, cerebral-atrophy, hyperkeratosis, and intestinal pseudo-obstruction prompts.
579	SLC18A2-related vesicular monoamine transporter 2 deficiency	UNMAPPED	Reject primary carnitine deficiency; true SLC18A2/VMAT2 monoamine-vesicular-transport gap, with no exact local target identified.
580	MTHFS-related 5,10-methenyltetrahydrofolate synthetase deficiency	UNMAPPED	Reject CPS1 deficiency; true MTHFS / 5-formyltetrahydrofolate cycloligase gap, with only broad folate/remethylation/cerebral-folate context.
581	HAMP-related hepcidin deficiency	MAPPED	Correct subtype-level mapping to Hemochromatosis.yaml#Type 2B; IEMbase adds concise ferritin, glucose, transferrin-saturation, and liver-iron prompts.
582	TFR2-related transferrin receptor 2 deficiency	MAPPED	Correct subtype-level mapping to Hemochromatosis.yaml#Type 3; IEMbase adds normal-to-high iron-index staging plus abdominal-pain and hyperpigmentation prompts.
583	INSR-related Donohue syndrome	UNMAPPED	Reject IPEX syndrome; true INSR severe insulin-receptoropathy gap; source-review IEMbase inheritance while preserving hyperinsulinemic hypoglycemia, ketone, and free-fatty-acid prompts.
584	SMS-related Snyder-Robinson syndrome	UNMAPPED	Reject GM3 synthase deficiency; true spermine-synthase/polyamine gap; source-review IEMbase inheritance/OMIM pairing and preserve N-acetylspermidine, epileptic-encephalopathy, and intellectual-disability prompts.
585	PHEX-related X-linked hypophosphatemia	MAPPED	Correct exact mapping to X-Linked_Hypophosphatemia.yaml; IEMbase adds alkaline-phosphatase, urinary-phosphate, normal-calcium, tinnitus, muscle-weakness, and waddling-gait prompts.
587	VPS11-related hypomyelinating leukodystrophy type 12	UNMAPPED	Reject HLD7/POLR3 candidate; true VPS11/HLD12 gap with urinary glycosphingolipid/sulfatide and MRI/sensory/autonomic prompts.
588	DNAJC12-related hyperphenylalaninemia	UNMAPPED	False negative; resolve to Disorder_of_Catecholamine_Synthesis.yaml#DNAJC12-related monoamine synthesis disorder, with pterin, CSF HVA/5-HIAA, treatment, autism, and dystonia prompts.

Batch 49

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
589	KCNA4-related potassium channelopathy	UNMAPPED	Reject CACNA1A calcium-channel candidate; true KCNA4 potassium-channelopathy gap with striatal-necrosis, cataract, dystonia, microcephaly, growth, and attention prompts.
590	PPA2-related mitochondrial inorganic pyrophosphatase 2 deficiency	UNMAPPED	Partial PPA2 coverage exists in Dilated_Cardiomyopathy.yaml; exact PPA2 mitochondrial pyrophosphatase / infantile sudden cardiac failure remains a local gap.
591	SAMD9-related MIRAGE syndrome	UNMAPPED	Reject CHARGE syndrome; true SAMD9/MIRAGE gap with adrenal-axis, myelodysplasia, thrombocytopenia, infection, enteropathy, and genital-phenotype prompts.
592	NANS-related N-acetylneuraminic acid synthase deficiency	UNMAPPED	Reject AIFM1/Bieganski SEMD candidate; true NANS-CDG / sialic-acid-biosynthesis gap with N-acetyl-D-mannosamine and skeletal/facial/neurodevelopmental prompts.
593	CCDC115-related congenital disorder of glycosylation	CANDIDATE	Reject ALG12-CDG as exact; true CCDC115-CDG / CDG-IIo gap with type 2 glycosylation, liver, lipid, ceruloplasmin, and neurodevelopmental prompts.
594	TANGO2-related recurrent metabolic encephalomyopathic crises	UNMAPPED	Reject PKAN candidate; true TANGO2/MECRCN gap with metabolic-crisis, rhabdomyolysis, arrhythmia, hypoglycemia, lactate, CK, and acylcarnitine prompts.
595	SLC39A8-related congenital disorder of glycosylation	CANDIDATE	Reject ALG12-CDG as exact; true SLC39A8-CDG / manganese-transporter gap with low manganese, zinc, type 2 sialotransferrin, and nutritional-treatment prompts.
596	SLC25A26-related S-adenosylmethionine carrier deficiency	UNMAPPED	Reject HHH syndrome as an SLC25-family false candidate; true SLC25A26/COXPD28 gap with respiratory-chain, pyruvate, lactic-acidosis, hydrops, and perinatal-failure prompts.
597	HAO1-related hydroxyacid oxidase 1 deficiency	UNMAPPED	False negative; resolve to HAO1-Related_Glycolate_Oxidase_Deficiency.yaml and source-review IEMbase oxalate/nephrolithiasis and achalasia/alacrima prompts before import.
598	GMPPA-related GDP-mannose pyrophosphorylase B deficiency	UNMAPPED	Reject CHIME syndrome; true GMPPA/AAMR gap with normal sialotransferrins, achalasia, alacrima, postural-hypotension, hearing, swallowing, and facial prompts.

Batch 50

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
599	GMPPB-related muscular dystrophy-dystroglycanopathy	CANDIDATE	Accept Dystroglycanopathy.yaml#MDDG14 (GMPPB) as subtype-level coverage, with Congenital_Myasthenic_Syndrome.yaml#GMPPB as secondary CMS context; preserve CK, alpha-dystroglycan, cataract, CMS, myoglobinuria, seizure, and neurodevelopmental prompts.
600	PGM1-related phosphoglucomutase 1 deficiency	CANDIDATE	Reject GSD I as exact; true PGM1-CDG / GSD XIV gap with D-galactose, transferrin, antithrombin, nonketotic hypoglycemia, hyperinsulinism, cardiomyopathy, rhabdomyolysis, hepatopathy, endocrine, clefting, thrombosis, and malignant-hyperthermia prompts.
601	PGM3-related phosphoglucomutase 3 deficiency	CANDIDATE	Reject IKBKG/IMD33 as exact; true PGM3-CDG / immunodeficiency-23 gap with N/O-glycan, normal sialotransferrin, CD19 B-cell, IgE, T-cell immunodeficiency, neutropenia, infection, atopy, skeletal, facial, growth, and neurodevelopmental prompts.
602	DHDDS-related dehydrodolichyl diphosphate synthase deficiency	CANDIDATE	Reject EYS-related RP as exact; true DHDDS-CDG / RP59 gap with normal sialotransferrins, retinitis pigmentosa, epilepsy, intellectual disability, ataxia, dystonia, hypotonia, micropenis, and acute renal-failure prompts.
603	NUS1-related Nogo-B receptor deficiency	UNMAPPED	Reject GABRD/GEFS+ as a seizure-only false candidate; true NUS1 / NgBR-CDG gap with cortical atrophy, retinitis pigmentosa, epilepsy, microcephaly, axial hypotonia, acral spasticity, scoliosis, developmental delay, and failure-to-thrive prompts.
604	DPM2-related dolichol-P-mannose synthase-2 deficiency	UNMAPPED	False negative; resolve to Dystroglycanopathy.yaml#DPM2-related dystroglycanopathy while preserving DPM2-CDG biochemical and systemic prompts including type 1 sialotransferrin, dolichol-linked Man5GlcNAc2, hepatomegaly, infections, respiratory, joint, scoliosis, strabismus, cerebral, seizure, and muscular-dystrophy rows.
605	ALG13-related UDP-N-acetylglucosamine transferase deficiency	UNMAPPED	Reject generic DEE13 as exact; true ALG13-CDG / EIEE36 gap with transferrin, thromboplastin, refractory epilepsy, regression, extrapyramidal/pyramidal, visual, feeding, microcephaly, hepatomegaly, and facial prompts.
606	ALG14-related congenital myasthenic syndrome 15	UNMAPPED	Partial broad context in Congenital_Myasthenic_Syndrome.yaml#Glycosylation, but exact ALG14-CDG / CMS15 remains a local gap; preserve normal CK, possible type 1 sialotransferrin, fetal hydrops, contractures, hypotonia, epilepsy, developmental delay, behavioral, and CMS-without-tubular-aggregates prompts.
607	DDOST-related congenital disorder of glycosylation	CANDIDATE	Reject ALG12-CDG as exact; true DDOST-CDG / CDG-Ir gap with transferrin, antithrombin, factor XI, protein C/S, neonatal liver, oromotor, strabismus, reflux, constipation, myelination, ear infection, osteopenia, failure-to-thrive, hypotonia, and neurodevelopmental prompts.
608	STT3A-related congenital disorder of glycosylation	CANDIDATE	Reject ALG12-CDG as exact; true STT3A-CDG gap with N-glycan, transferrin, factor VIII, von Willebrand factor, seizure, hypotonia, neurodevelopmental, gastrointestinal dysmotility, growth, microcephaly, and cerebellar-atrophy prompts.

Batch 51

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
609	STT3B-related congenital disorder of glycosylation	CANDIDATE	Reject ALG12-CDG as exact; true STT3B-CDG gap with neonatal transferrin type I pattern, respiratory/hepatic/coagulation, neurodevelopmental, optic-atrophy, and genital-phenotype prompts.
610	SSR4-related congenital disorder of glycosylation	CANDIDATE	Reject ALG12-CDG as exact; true X-linked SSR4-CDG gap with transferrin, abnormal fat distribution, neurodevelopmental, dysmorphic, strabismus, skeletal, and genital prompts.
611	MAN1B1-related mannosyl-oligosaccharide alpha-1,2-mannosidase deficiency	UNMAPPED	True MAN1B1-CDG gap; reject generic DYRK1A/intellectual-disability overlap and preserve transferrin, transaminase, speech, behavior, obesity, hypotonia, seizure, strabismus, and facial prompts.
612	SLC35A2-related early infantile epileptic encephalopathy-22 / CDG	MAPPED	Correct exact SLC35A2-CDG.yaml mapping with high concordance; review IEMbase prompts for infections, visual/retinal findings, limb/hand abnormalities, corpus-callosum/cerebellar imaging, and galactose evidence wording.
613	TMEM165-related congenital disorder of glycosylation	CANDIDATE	Reject ALG12-CDG as exact; true TMEM165-CDG / CDG-IIk gap with type II sialotransferrin, CK/transaminase, growth hormone, skeletal, osteoporosis, hepatomegaly, joint-laxity, and treatability-review prompts.
614	COG2-related conserved oligomeric Golgi complex deficiency	CANDIDATE	Reject COG1-CDG as exact; true COG2-CDG gap with transferrin, copper/ceruloplasmin, coagulopathy, pituitary, thin-corpus-callosum, spasticity, seizure, hepatic, and neurodevelopmental prompts.
615	COG4-related conserved oligomeric Golgi complex deficiency	CANDIDATE	Reject COG1-CDG as exact; true COG4-CDG gap with transferrin, apolipoprotein CIII, liver-enzyme, AFP, ammonia, LDL, cerebral-atrophy, developmental-delay, and intellectual-disability prompts.
616	PLPBP-related pyridoxal 5-prime-phosphate binding protein deficiency	UNMAPPED	True treatable PLPBP / vitamin B6-dependent epilepsy gap; reject PDH/E3-binding candidate and source-review vitamin B6 evidence before import.
617	WDR45-related neurodegeneration with brain iron accumulation 5	MAPPED	Correct subtype mapping to Neurodegeneration_With_Brain_Iron_Accumulation.yaml#BPAN; preserve BPAN-specific dementia, cerebral atrophy, movement disorder, seizure, and age-banded brain-iron prompts.
618	TDO2-related hypertryptophanemia	UNMAPPED	True local gap but scope-review needed because IEMbase is biochemical-only; reject alkaptonuria and preserve tryptophan/serotonin biomarker prompts if curated.

Batch 52

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
619	SLC16A1-related monocarboxylate transporter-1 deficiency	UNMAPPED	True MCT1 deficiency gap; reject primary carnitine deficiency and keep distinct from earlier SLC16A1/HHF7 superactivity.
620	COASY-related coenzyme A synthase deficiency	CANDIDATE	Broad NBIA/PKAN differential context only; reject BPAN as exact and curate COASY/NBIA6/CoPAN as its own NBIA subtype or disease if selected.
621	TPK1-related thiamine pyrophosphokinase deficiency	CANDIDATE	Reject SLC19A3 biotin-thiamine-responsive basal ganglia disease as exact; true TPK1/THMD5 gap with thiamine, lactate, 2-ketoglutarate, and globus-pallidus prompts.
622	PCYT1A-related retinoskeletal phosphocholine cytidylyltransferase deficiency	UNMAPPED	Reject SED congenita; true PCYT1A/SMDCRD gap with hypolipidemia, cone-rod dystrophy, retinopathy, and skeletal prompts.
623	CAD-related trifunctional protein deficiency	CANDIDATE	Reject mitochondrial trifunctional protein deficiency as a lexical false candidate; true CAD/CAD-CDG/EIEE50 gap with uridine, epilepsy/regression, anemia, and normal biochemical-caveat prompts.
625	POGLUT1-related Dowling-Degos disease 4	UNMAPPED	Reject EBS Dowling-Meara lexical collision; true POGLUT1/DDD4 gap with dermatologic and normal sialotransferrin prompts.
626	GANAB-related alpha glucosidase II deficiency	AMBIGUOUS	Covered at ADPKD disease-family level via GANAB pathogenic variants; prefer Autosomal_Dominant_Polycystic_Kidney_Disease.yaml and preserve GANAB/PKD3 subtype and normal sialotransferrin caveats.
627	PIGW-related hyperphosphatasia with mental retardation syndrome 5	UNMAPPED	Reject PIGL/CHIME as exact; true PIGW/HPMRS5 GPI-anchor gap with alkaline phosphatase, decreased GPI markers, epilepsy, hypotonia, and developmental-delay prompts.
628	PIGC-related developmental disability with drug-responsive epilepsy	UNMAPPED	Reject IRX5 craniofacial/ID candidate; true PIGC-CDG gap with decreased GPI markers, seizures, intellectual disability, ataxia, cerebellar, hypotonia, and facial prompts.
629	PIGG-related glycosylphosphatidylinositol biosynthesis defect 13	UNMAPPED	True PIGG/GPIBD13 gap; keep separate from Wolf-Hirschhorn PIGG haploinsufficiency context and preserve normal GPI-marker caveat.

Batch 53

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
630	PGAP1-related GPI deacylase deficiency	UNMAPPED	True PGAP1/GPI-deacylase gap; keep separate from chromosome 2q32-q33 deletion PGAP1 haploinsufficiency context and preserve neurodevelopmental, epilepsy, MRI, hypotonia, movement, apnea, hand, and facial prompts.
631	PGAP3-related hyperphosphatasia with mental retardation syndrome 4	UNMAPPED	Reject PIGL/CHIME as exact; true PGAP3/HPMRS4 GPI-anchor maturation gap with alkaline phosphatase, decreased GPI markers, hypotonia, epilepsy, intellectual disability, ataxia, cleft-palate, and micrognathia prompts.
632	TRAPPC11-related limb-girdle muscular dystrophy 2S	UNMAPPED	Reject autosomal dominant LGMD as exact; true recessive TRAPPC11/LGMD2S-CDG gap with CK, weakness/myopathy, cholestasis, neurodevelopmental, cerebral atrophy, hip, skeletal, and facial prompts.
633	VPS13B-related Cohen syndrome	UNMAPPED	Reject GM3 synthase deficiency; true VPS13B/Cohen syndrome gap with transferrin glycoforms, myopia, chorioretinal degeneration, neutropenia, obesity, microcephaly, ID, and joint-laxity prompts.
634	TMEM199-related congenital disorder of glycosylation	CANDIDATE	Reject ALG12-CDG as exact; true TMEM199-CDG/CDG-IIp gap with alkaline phosphatase, transaminase, type 2 sialotransferrin, apolipoprotein CIII, low ceruloplasmin, and hepatomegaly prompts.
635	ATP6AP1-related immunodeficiency 47 and hepatopathy	UNMAPPED	Reject IKBKG immunodeficiency and somatic ATP6AP1 granular-cell-tumor context; true inherited ATP6AP1-CDG gap with glycosylation, copper/ceruloplasmin, immunoglobulin, liver, infection, pancreatic, neurologic, and cutis-laxa prompts.
636	ATP6V1A-related autosomal recessive cutis laxa type IID	UNMAPPED	Reject EDAR HED and somatic ATP6V1A tumor context; true ATP6V1A cutis-laxa/CDG gap with sialotransferrin, cutis laxa, seizures, hypotonia, cardiovascular, brain MRI, contracture, kyphoscoliosis, ocular, and facial prompts.
637	ATP6V1E1-related autosomal recessive cutis laxa type IIC	UNMAPPED	Reject chronic granulomatous disease; true ATP6V1E1 cutis-laxa/CDG gap with type 2 sialotransferrin, cutis laxa, hypotonia, cardiovascular, skeletal/contracture, cleft-palate, ocular, dental, and facial prompts.
638	XYLT1-related Desbuquois dysplasia 2	UNMAPPED	Reject FBN1-related geleophysic dysplasia 2 and CANT1/Desbuquois mentions as exact; true XYLT1/Desbuquois dysplasia 2 gap with brachydactyly, femoral, patellar, coronal-cleft, joint-laxity, short-stature, craniofacial, and clubfoot prompts.
639	XYLT2-related spondyloocular syndrome	UNMAPPED	True XYLT2/spondyloocular syndrome gap; preserve combined bone-density/fracture, vertebral, cataract, retinal-detachment, hearing-loss, cardiac, stature, kyphosis, and ID prompts.

Batch 54

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
640	RXYLT1-related muscular dystrophy-dystroglycanopathy type A	MAPPED	Correct disease-level target is Dystroglycanopathy.yaml, not lissencephaly spectrum alone; broadly covered via RXYLT1/MDDG10 and type A dystroglycanopathy, with gonadal and neural-tube prompts still thin.
641	CRPPA-related muscular dystrophy-dystroglycanopathy types A7 and C7	UNMAPPED	Broadly covered by Dystroglycanopathy.yaml through CRPPA/MDDG7 and type A/C framework; missing exact A7/C7 cross-product subtype and some eye/brain/limb detail.
642	FKTN-related muscular dystrophy-dystroglycanopathy type A	UNMAPPED	Broadly covered by Dystroglycanopathy.yaml through FKTN/MDDG4 and type A/Fukuyama continuum; missing exact FKTN type A row and several ocular, regression, contracture, respiratory, and cardiac prompts.
643	FKTN-related muscular dystrophy-dystroglycanopathy type B	UNMAPPED	Broadly covered by FKTN and type B dystroglycanopathy; preserve narrow no-intellectual-disability row nuance with CK, normal sialotransferrin, hypotonia, and muscular dystrophy prompts.
644	FKTN-related muscular dystrophy-dystroglycanopathy type C	UNMAPPED	Broadly covered by Dystroglycanopathy.yaml; not yet represented as an FKTN limb-girdle subtype in AR LGMD, so preserve rigid-spine and cardiomyopathy prompts.
645	FKRP-related muscular dystrophy-dystroglycanopathy type A	UNMAPPED	Broadly covered by Dystroglycanopathy.yaml through FKRP/MDDG5 and type A framework; missing exact FKRP type A row and detailed Walker-Warburg eye/brain/regression prompts.
646	FKRP-related muscular dystrophy-dystroglycanopathy type B	UNMAPPED	Broadly covered by FKRP and type B dystroglycanopathy; missing exact FKRP type B row with nodular heterotopia, cerebellar white-matter, feeding, microcephaly, and spinal prompts.
647	FKRP-related muscular dystrophy-dystroglycanopathy type C	UNMAPPED	Covered locally by both Dystroglycanopathy.yaml and FKRP/LGMDR9 in AR LGMD; preserve myoglobinuria and tongue-hypertrophy prompts not clearly captured locally.
648	VPS33A-related mucopolysaccharidosis-plus syndrome	UNMAPPED	Reject Hurler syndrome as exact; true VPS33A MPS-plus gap with GAG/oligosaccharide, hematologic, renal, cardiac, respiratory, infection, neurodevelopmental, and storage-phenotype prompts.
650	TIMM50-related 3-methylglutaconic aciduria type 9	UNMAPPED	Reject glutaryl-CoA dehydrogenase deficiency as exact; true TIMM50/3-methylglutaconic aciduria type 9 gap with lactate, 3-MGA, epilepsy, hypsarrhythmia, optic atrophy, and brain-imaging prompts.

Batch 55

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
651	HAAO-related 3-hydroxyanthranilic acid 3,4-dioxygenase deficiency	UNMAPPED	Reject alkaptonuria; true HAAO/VCRL1 gap with 3-hydroxyanthranilic acid, NAD+, cardiac, renal, limb, hearing, stature, and ID prompts.
652	KYNU-related 3-hydroxykynureninase deficiency	UNMAPPED	Reject hereditary orotic aciduria; true KYNU/VCRL2/xanthurenic aciduria gap with kynurenine-pathway metabolites, NAD+, cardiac, renal, limb, stature, and speech prompts.
653	TPI1-related triosephosphate isomerase deficiency	UNMAPPED	Reject intrinsic factor deficiency; true TPI1 glycolytic hemolytic-anemia gap with red-cell TPI/DHAP, infections, neuromuscular, cardiac, seizure, and stroke prompts.
655	DHTKD1-related 2-aminoadipic 2-oxoadipic aciduria	UNMAPPED	Reject D-2-hydroxyglutaric aciduria as exact; true DHTKD1/AMOXAD gap with adipic/ketoadipic organic-acid, ketone, acidosis, developmental, and seizure prompts.
656	CA5A-related carbonic anhydrase VA deficiency	UNMAPPED	Broad hyperammonemia/UCD context only; true CA5A gap with ammonia, lactate, glucose, amino-acid, organic-acid, acylglycine, encephalopathy, coma, and feeding prompts.
657	ALDH3A2-related fatty aldehyde dehydrogenase deficiency	UNMAPPED	Reject Sjogren autoimmune disease as an eponym collision; true ALDH3A2/Sjogren-Larsson gap with enzyme, ichthyosis, spasticity, ID, leukoencephalopathy, and macular prompts.
658	TTPA-related alpha-tocopherol transfer protein deficiency	MAPPED	Correct exact AVED mapping to Familial_Isolated_Vitamin_E_Deficiency.yaml; IEMbase adds lipid, broad-beta electrophoresis, brain MRI, and xanthoma prompts.
659	ABCD3-related congenital bile acid synthesis defect	MAPPED	Broad bile-acid umbrella context only; exact ABCD3/PMP70 subtype gap with THCA/C27 bile acids, normal peroxisomal lipid markers, liver, anemia, and hepatosplenomegaly prompts.
660	ACOX2-related congenital bile acid synthesis defect	MAPPED	Broad bile-acid umbrella context only; exact ACOX2/CBAS6 subtype gap with C24/C27 bile-acid directionality, vitamin D, cholesterol, ataxia, cognition, steatorrhea, and fibrosis prompts.
661	UGT1A1-related UDP-glucuronosyltransferase A1 deficiency	MAPPED	Partial Gilbert-only coverage; severe Crigler-Najjar/bilirubin-neurotoxicity scope remains under-covered, including convulsions, abnormal eye movements, hearing, and neonatal instability.

Batch 56

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
662	NR1H4-related progressive familial intrahepatic cholestasis 5	UNMAPPED	True NR1H4/FXR/PFIC5 gap; reject progressive familial heart block and use bile-acid/cholestasis files only as broad context for normal-GGT neonatal cholestasis and liver failure.
663	PPM1K-related branched-chain ketoacid dehydrogenase phosphatase deficiency	UNMAPPED	Partial MSUD pathway coverage in Maple_Syrup_Urine_Disease.yaml; no standalone PPM1K mild-variant subtype/file, so preserve the phosphatase mechanism and mild elevated-BCAA signal.
664	BCKDK-related branched-chain ketoacid dehydrogenase kinase deficiency	MAPPED	Correct exact mapping to BCKDK_Deficiency.yaml; IEMbase adds speech and stereotyped-hand-movement prompts on top of the low-BCAA autism/ID/seizure phenotype.
665	ECHS1-related mitochondrial short-chain enoyl-CoA hydratase 1 deficiency	UNMAPPED	False negative from stale mapping; resolve to exact ECHS1_Deficiency.yaml and reject beta-ketothiolase deficiency while preserving neonatal metabolite, cardiomyopathy, hearing, optic, and apnea prompts.
666	UQCRC2-related mitochondrial complex III deficiency, nuclear type 5	CANDIDATE	Reject COX8A complex IV candidate; true UQCRC2/complex III gap with neonatal lactate, hypoglycemia, hyperammonemia, metabolic acidosis, transaminase, and developmental-delay prompts.
667	SLC45A1-related neuronal glucose transporter deficiency	UNMAPPED	False negative from stale mapping; resolve to exact SLC45A1-Related_Neuronal_Glucose_Transporter_Deficiency.yaml and preserve normal CSF/plasma glucose plus dysmorphology prompts.
668	SI-related sucrase-isomaltase deficiency	MAPPED	Correct exact mapping to Congenital_Sucrase-Isomaltase_Deficiency.yaml; IEMbase adds sodium, normal reducing-sugar, dehydration, and urolithiasis prompts.
669	TREH-related trehalase deficiency	UNMAPPED	False negative from stale mapping; resolve to exact Trehalase_Deficiency.yaml and reject galactosemia while preserving normal stool reducing sugars and adolescent/adult GI timing.
671	CRAT-related carnitine acetyltransferase deficiency	UNMAPPED	True CRAT gap; reject CPT2/CPT1A carnitine-shuttle context and preserve childhood ataxia, oculomotor apraxia, consciousness disturbance, hypotonia, and ID prompts.
673	CPT1C-related autosomal dominant spastic paraplegia type 73	CANDIDATE	Reject CPT2 deficiency and CPT1A isoform context; true CPT1C/SPG73 gap with adult spastic paraplegia, hyperreflexia, weakness/atrophy, loss of ambulation, and evoked-potential prompts.

Batch 57

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
674	PMVK-related phosphomevalonate kinase deficiency	UNMAPPED	True PMVK/POROK1 gap; reject MVK-related mevalonate kinase deficiency and unrelated RNU12 porokeratosis context while preserving adolescent/adult actinic porokeratosis and keratotic lesions.
675	MVD-related mevalonate pyrophosphate decarboxylase deficiency	UNMAPPED	True MVD/POROK7 gap; reject hereditary orotic aciduria and use mevalonate-pathway content only as broad context for adolescent/adult porokeratosis.
676	FDPS-related farnesylpyrophosphate synthetase deficiency	UNMAPPED	True FDPS/POROK9 gap; reject CPS1 deficiency and preserve the dominant porokeratosis/keratotic-lesion phenotype.
677	NDUFAF1-related complex I assembly factor 1 deficiency	CANDIDATE	Reject COX20 complex IV candidate; true NDUFAF1/MC1DN11 gap with decreased complex I activity, lactate, cardiomyopathy, failure-to-thrive, hypotonia, lactic-acidosis, and MELAS-like prompts.
678	NDUFAF2-related complex I assembly factor 2 deficiency	CANDIDATE	Reject COX14 complex IV candidate; true NDUFAF2/MC1DN10 gap with renal tubular acidosis, respiratory insufficiency, basal-ganglia, nystagmus, optic-atrophy, ataxia, and encephalopathy prompts.
679	NDUFAF3-related complex I assembly factor 3 deficiency	CANDIDATE	Reject COX6A2 complex IV candidate; true NDUFAF3/MC1DN18 gap with neonatal/infantile complex I deficiency, lactate, leukomalacia, perinatal death, respiratory failure, hypotonia, and optic atrophy.
680	NDUFAF4-related complex I assembly factor 4 deficiency	CANDIDATE	Reject COX8A complex IV candidate; true NDUFAF4/MC1DN15 gap with neonatal/infantile complex I deficiency, lactate, Leigh syndrome, cardiomyopathy, and encephalomyopathy.
681	NDUFAF5-related complex I assembly factor 5 deficiency	CANDIDATE	Reject COX4I1 complex IV candidate; true NDUFAF5/MC1DN16 gap with broad Leigh/complex I overlap plus CSF lactate, dysmorphology, IUGR, hair/toe, sacral-pit, and movement-disorder prompts.
682	NDUFAF6-related complex I assembly factor 6 deficiency	UNMAPPED	Partial gene-level coverage in Fanconi_Renotubular_Syndrome.yaml#FRTS5, but exact MC1DN17 Leigh/striatal-necrosis phenotype remains under-covered.
683	FOXRED1-related mitochondrial complex I deficiency, nuclear type 19	CANDIDATE	Reject PET117 complex IV candidate; true FOXRED1/MC1DN19 gap with decreased complex I activity, lactate, Leigh syndrome, hypertrophic cardiomyopathy, cerebellar atrophy, and pulmonary hypertension.

Batch 58

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
684	TMEM126B-related transmembrane protein 126B deficiency	CANDIDATE	Reject COX11 complex IV candidate; true TMEM126B/MC1DN29 gap with decreased complex I activity, hypertrophic cardiomyopathy, myopathy, renal tubular acidosis, and exercise intolerance.
685	NDUFV1-related NADH dehydrogenase flavoprotein 1 deficiency	UNMAPPED	Partial gene-level coverage in Leigh_Syndrome.yaml, but no standalone NDUFV1/MC1DN4 target; preserve lactate, brainstem/basal-ganglia lesions, cardiomyopathy, ophthalmoplegia, microcephaly, and regression prompts.
686	NDUFV2-related NADH dehydrogenase flavoprotein 2 deficiency	CANDIDATE	Reject COX6B1 complex IV candidate; true NDUFV2/MC1DN7 gap with leukodystrophy, liver dysfunction, myopathy, optic neuropathy, parkinsonism, and hypertrophic cardiomyopathy prompts.
687	NDUFS1-related NADH dehydrogenase iron-sulfur protein 1 deficiency	CANDIDATE	Reject COX8A complex IV candidate; true NDUFS1/MC1DN5 gap with lactate, cardiomyopathy, encephalopathy, hypotonia, liver dysfunction, myopathy, leukodystrophy, and optic neuropathy.
688	NDUFS2-related NADH dehydrogenase iron-sulfur protein 2 deficiency	CANDIDATE	Reject COX4I1 complex IV candidate; true NDUFS2/MC1DN6 gap with lactate, encephalopathy, hypotonia, Leigh syndrome, liver dysfunction, parkinsonism, cardiomyopathy, and myopathy.
689	NDUFS3-related NADH dehydrogenase iron-sulfur protein 3 deficiency	CANDIDATE	Reject TACO1 complex IV candidate; true NDUFS3/MC1DN8 gap with decreased complex I activity, lactate, developmental delay, encephalopathy, Leigh syndrome, and myopathy.
690	NDUFS4-related NADH dehydrogenase iron-sulfur protein 4 deficiency	UNMAPPED	Partial gene-level coverage in Leigh_Syndrome.yaml, but no standalone NDUFS4/MC1DN1 target; preserve complex I/III activity, glucose, lactate, basal-ganglia, failure-to-thrive, hypotonia, cardiomyopathy, and Leigh prompts.
691	NDUFS6-related NADH dehydrogenase iron-sulfur protein 6 deficiency	CANDIDATE	Reject PET117 complex IV candidate; true NDUFS6/MC1DN9 gap with severe multisystem complex I disease, cardiomyopathy, basal-ganglia, hypotonia, lactic-acidosis, and failure-to-thrive prompts.
692	NDUFS7-related NADH dehydrogenase iron-sulfur protein 7 deficiency	CANDIDATE	Reject COX10 complex IV candidate; true NDUFS7/MC1DN3 gap with lactate, ataxia, epilepsy, feeding difficulty, liver dysfunction, myopathy, cardiomyopathy, encephalopathy, and Leigh prompts.
693	NDUFS8-related NADH dehydrogenase iron-sulfur protein 8 deficiency	CANDIDATE	Reject COX11 complex IV candidate; true NDUFS8/MC1DN2 gap with decreased complex I activity, Leigh syndrome, ataxia, dysarthria, hypotonia, cardiomyopathy, myopathy, and progressive external ophthalmoplegia.

Batch 59

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
694	NDUFA1-related NADH dehydrogenase alpha subcomplex subunit 1 deficiency	CANDIDATE	Reject PET100 complex IV candidate; true NDUFA1/MC1DN12 gap with X-linked inheritance, decreased complex I activity, lactate, epilepsy, hypotonia, lactic acidosis, psychomotor retardation, basal-ganglia MRI abnormalities, and Leigh syndrome.
695	NDUFA2-related NADH dehydrogenase alpha subcomplex subunit 2 deficiency	CANDIDATE	Reject COX10 complex IV candidate; true NDUFA2/MC1DN13 gap with decreased complex I activity, lactate, lactic acidosis, Leigh syndrome, and leukoencephalopathy; source OMIM:256000 should be reviewed against expected OMIM:618235.
696	NDUFA4-related cytochrome c oxidase subunit NDUFA4 (COXFA4) deficiency	MAPPED	Correct exact mapping to COXFA4-Related_COX_Deficiency.yaml; DisMech is strong for corrected complex IV mechanism and lactate/Leigh identity, while IEMbase adds alanine, CSF lactate, FTT, regression, neuropathy, optic, renal, respiratory, dystonia, and hypertension prompts.
697	NDUFA9-related NADH dehydrogenase alpha subcomplex subunit 9 deficiency	CANDIDATE	Reject COX11 complex IV candidate; true NDUFA9/MC1DN26 gap with decreased complex I activity, lactate, brain/brainstem MRI disease, dysarthria, dysphagia, lactic acidosis, Leigh syndrome, dystonia, and retinitis pigmentosa; source OMIM:256000 should be reviewed against expected OMIM:618247.
698	NDUFA10-related NADH dehydrogenase alpha subcomplex subunit 10 deficiency	CANDIDATE	Reject COX16 complex IV candidate; true NDUFA10/MC1DN22 gap with decreased complex I activity, lactate, lactic acidosis, psychomotor retardation, basal-ganglia MRI abnormalities, hypertrophic cardiomyopathy, hypotonia, and Leigh syndrome.
699	NDUFA11-related NADH dehydrogenase alpha subcomplex subunit 11 deficiency	CANDIDATE	Reject COA3 complex IV candidate; true NDUFA11/MC1DN14 gap with decreased complex I activity, lactate, cardiomyopathy, encephalopathy, and a source lactic-acidosis marker anomaly.
700	NDUFA12-related NADH dehydrogenase alpha subcomplex subunit 12 deficiency	CANDIDATE	Reject COX11 complex IV candidate; true NDUFA12/MC1DN23 gap with decreased complex I activity, growth retardation, Leigh syndrome, psychomotor retardation, dystonia, and hypotonia.
701	NDUFA13-related NADH dehydrogenase alpha subcomplex subunit 13 deficiency	CANDIDATE	Reject TACO1 complex IV candidate; true NDUFA13/MC1DN28 gap with decreased complex I activity, lactate, cerebellar atrophy, developmental delay, encephalopathy, feeding difficulties, lactic acidosis, and hypotonia.
702	NDUFB3-related NADH dehydrogenase beta subcomplex subunit 3 deficiency	CANDIDATE	Reject COX18 complex IV candidate; true NDUFB3/MC1DN25 gap with decreased complex I activity, lactate, developmental delay, encephalopathy, hypotonia, myopathy, and lactic acidosis; source OMIM:252010 should be reviewed against expected OMIM:618246.
703	NDUFB9-related NADH dehydrogenase beta subcomplex subunit 9 deficiency	CANDIDATE	Reject FASTKD5 complex IV candidate; true NDUFB9/MC1DN24 gap with decreased complex I activity, lactate, perinatal death, hypotonia, and lactic acidosis; source OMIM:252010 should be reviewed against expected OMIM:618245.

Batch 60

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
704	NDUFB11-related NADH dehydrogenase beta subcomplex subunit 11 deficiency	CANDIDATE	Reject COX10 complex IV candidate; true NDUFB11/MC1DN30 or NDUFB11/LSDMCA3 gap with decreased complex I activity, lactate, sideroblastic anemia, cardiomyopathy, microphthalmia, perinatal death, and lactic acidosis; source OMIM:252010 should be reviewed against MONDO's NDUFB11/LSDMCA3 OMIM:300952 context.
705	MT-ND1-related NADH dehydrogenase core subunit 1 deficiency	UNMAPPED	True MT-ND1 complex I gap with decreased complex I activity, lactate, exercise intolerance, LHON, hypertrophic cardiomyopathy, dystonia, MELAS-like features, myopathy, and spasticity; reject weak PDH E1-beta candidate.
706	MT-ND2-related NADH dehydrogenase core subunit 2 deficiency	UNMAPPED	True MT-ND2 complex I gap with decreased complex I activity, lactate, low-to-normal glucose, exercise intolerance, LHON, Leigh syndrome, and ragged red fibers; reject weak PDH E1-beta candidate.
707	MT-ND3-related NADH dehydrogenase core subunit 3 deficiency	UNMAPPED	True MT-ND3 complex I gap with decreased complex I activity, lactate, dystonia, epilepsy, abnormal eye movements, LHON, neuropathy, encephalopathy, Leigh syndrome, myopathy, and optic atrophy; reject weak PDH E1-beta candidate.
708	MT-ND4-relatedNADH dehydrogenase core subunit 4 deficiency	UNMAPPED	True MT-ND4 complex I gap with decreased complex I activity, lactate, dystonia, LHON, adult MELAS-like features, and Leigh syndrome; reject weak PDH E1-beta candidate and preserve the source-label spacing anomaly.
709	MT-ND4L-related NADH dehydrogenase core subunit 4L deficiency	UNMAPPED	True MT-ND4L complex I/LHON gap with decreased complex I activity and adolescent/adult LHON; reject weak PDH E1-beta candidate.
710	MT-ND5-related NADH dehydrogenase core subunit 5 deficiency	UNMAPPED	Partial MT-ND5 context exists in Leigh and MELAS entries, but exact MT-ND5 complex I deficiency remains missing; preserve complex I activity, lactate, LHON, Leigh, MELAS-like, source-spelled MERFF-like, renal failure, and myopathy prompts.
711	MT-ND6-related NADH dehydrogenase core subunit 6 deficiency	UNMAPPED	True MT-ND6 complex I gap with decreased complex I activity, lactate, dystonia, lactic acidosis, LHON, MELAS-like features, stroke-like episodes, epilepsy, Leigh syndrome, and optic atrophy; reject weak PDH E1-beta candidate.
712	TTC19-related Mitochondrial complex III deficiency, nuclear type 2	CANDIDATE	Reject COX11 complex IV candidate; true TTC19/MC3DN2 complex III gap with lactate, low-to-normal glucose, hypoglycemia, metabolic acidosis, basal ganglia MRI abnormalities, developmental delay, and gait ataxia.
714	UQCC3-related Mitochondrial complex III deficiency, nuclear type 9	CANDIDATE	Reject PET117 complex IV candidate; true UQCC3/MC3DN9 complex III gap with lactate, developmental delay, and short stature.

Batch 61

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
715	LYRM7-related Mitochondrial complex III deficiency, nuclear type 8	CANDIDATE	Reject TACO1 complex IV candidate; true LYRM7/MC3DN8 complex III gap with lactate, cavitating leukodystrophy, developmental delay, episodic encephalopathy, hypotonia, and possible perinatal death.
716	UQCRB-related Mitochondrial complex III deficiency, nuclear type 3	CANDIDATE	Reject COX10 complex IV candidate; true UQCRB/MC3DN3 complex III gap with decreased complex III activity, lactate, epilepsy, growth retardation, intellectual disability, cardiomyopathy, encephalopathy, exercise intolerance, lactic acidosis, and myopathy.
717	UQCRQ-related Mitochondrial complex III deficiency, nuclear type 4	CANDIDATE	Reject SCO1 complex IV candidate; true UQCRQ/MC3DN4 complex III gap with low-to-normal glucose, lactate, basal ganglia MRI abnormalities, intellectual disability, loss of speech, and extrapyramidal signs.
719	COA3-related Cytochrome c oxidase assembly factor 3 deficiency	UNMAPPED	False negative; resolve to exact COA3-Related_COX_Deficiency.yaml, with IEMbase adding developmental delay on top of local neuropathy, exercise intolerance, obesity, short stature, and COX1-coupling mechanism.
720	COA5-related Cytochrome c oxidase assembly factor 5 deficiency	CANDIDATE	Reject COX15/type 2 candidate; true COA5 fatal infantile COX deficiency type 3 gap with neonatal cardiomyopathy and perinatal death.
721	COA6-related Cytochrome c oxidase assembly factor 6 deficiency	CANDIDATE	Reject COX15/type 2 candidate; true COA6 fatal infantile COX deficiency type 4 gap with neonatal/infantile lactate elevation, cardiomyopathy, and perinatal death.
722	COA7-related Cytochrome c oxidase assembly factor 7 deficiency	UNMAPPED	Reject COA3 as exact; true COA7 complex IV assembly gap with ataxia, developmental delay, peripheral neuropathy, and leukodystrophy.
723	COX10-related Cytochrome c oxidase assembly factor 10 deficiency	UNMAPPED	False negative; resolve to exact COX10-Related_COX_Deficiency.yaml, preserving source alternate-name anomaly and IEMbase glucose, hemoglobin/anemia, cardiomyopathy, renal, developmental, and hypotonia prompts.
724	COX14-related Cytochrome c oxidase assembly factor 14 deficiency	UNMAPPED	False negative; resolve to exact COX14-Related_COX_Deficiency.yaml, with IEMbase adding explicit cardiomyopathy and perinatal-death prompts to local fatal neonatal lactic acidosis and COX I assembly mechanism.
725	COX15-related Cytochrome c oxidase assembly factor 15 deficiency	MAPPED	Correct exact mapping to COX15-Related_COX_Deficiency.yaml; IEMbase adds age-banded lactate, basal ganglia MRI, hypotonia, Leigh, perinatal-death, developmental-delay, and epilepsy prompts.

Batch 62

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
726	COX20-related Cytochrome c oxidase assembly factor 20 deficiency	UNMAPPED	False negative; resolve to exact COX20-Related_COX_Deficiency.yaml, with IEMbase adding age-banded normal-to-high lactate to local ataxia, hypotonia, dystonia, dysarthria, areflexia, sensory neuropathy, and COX2-maturation mechanism.
727	SCO1-related Mitochondrial complex IV deficiency	MAPPED	Correct exact mapping to SCO1-Related_COX_Deficiency.yaml; IEMbase adds alanine, dicarboxylic acids, CSF/plasma/urine lactate, brain atrophy, hypertrophic cardiomyopathy, neonatal hepatic/respiratory/feeding features, and perinatal-death prompts.
728	SCO2-related Myopia 6	MAPPED	Correct for the fatal infantile cardioencephalomyopathy alternate identity, but preserve the source primary-label caveat; IEMbase adds detailed neurologic, neuromuscular, respiratory, ocular-motor, and age-banded lactate prompts.
729	SURF1-related COX IV deficiency	UNMAPPED	False negative; resolve to exact SURF1-Related_Leigh_Syndrome.yaml, with IEMbase adding basal-ganglia/brainstem MRI, hypertrichosis, ophthalmoplegia, tremor, nystagmus, feeding/vomiting, cardiomyopathy, optic, respiratory, and perinatal-death prompts.
730	COX4I2-related Cytochrome c oxidase subunit 4I2 deficiency	MAPPED	Correct exact EPIDACH mapping to COX4I2-Related_Pancreatic_Insufficiency-Anemia-Hyperostosis_Syndrome.yaml; IEMbase adds hepatomegaly, splenomegaly, and failure-to-thrive prompts while local captures anemia, hyperostosis, malabsorption, and mechanism.
731	COX6A1 related Cytochrome c oxidase subunit 6A1 deficiency	UNMAPPED	Reject COX6A2 as exact; true COX6A1/recessive intermediate Charcot-Marie-Tooth disease type D gap with hearing loss and progressive polyneuropathy.
732	COX6B1-related Cytochrome c oxidase subunit 6B1 deficiency	UNMAPPED	False negative; resolve to exact COX6B1-Related_COX_Deficiency.yaml, with IEMbase adding lactate, leukodystrophy, myopathy, and epilepsy prompts to local encephalopathy, hydrocephalus, cardiomyopathy, and structural-subunit mechanism.
733	COX7B-related Cytochrome c oxidase subunit 7B deficiency	UNMAPPED	Reject COX6B1 as exact; true COX7B/linear skin defects with multiple congenital anomalies 2 gap with X-linked inheritance, microcephaly, short stature, and linear skin defects.
734	COX8A-related Cytochrome c oxidase subunit 8A deficiency	UNMAPPED	False negative; resolve to exact COX8A-Related_COX_Deficiency.yaml, with IEMbase adding microcephaly, developmental delay, and pulmonary hypertension prompts to local epilepsy, leukodystrophy, Leigh-like syndrome, and structural-subunit mechanism.
735	MT-CO1-related Cytochrome c oxidase subunit 1 deficiency	UNMAPPED	Reject COX4I1 as exact; true MT-CO1 mtDNA-encoded complex IV gap with alanine, rhabdomyolysis, stroke-like episodes, epilepsy, and muscle weakness; review source inheritance before modeling.

Batch 63

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
736	MT-CO2-related Cytochrome c oxidase subunit 2 deficiency	UNMAPPED	Reject COX4I1 as exact; true MT-CO2 mtDNA-encoded complex IV gap with age-banded lactate, myopathy, muscle weakness, cardiomyopathy, developmental delay, and retinopathy prompts.
737	MT-CO3-related Cytochrome c oxidase subunit 3 deficiency	UNMAPPED	Reject COX4I1 as exact; true MT-CO3 mtDNA-encoded complex IV gap with lactate, myopathy, weakness, possible Leigh syndrome, and psychomotor-delay prompts.
738	ATPAF2-related Mitochondrial ATP synthase F1 assembly factor 2 deficiency	CANDIDATE	Reject SURF1 complex IV candidate; true ATPAF2 complex V assembly gap with neonatal organic acids, lactate, neuroimaging, renal/hepatic, dysmorphology, seizure, feeding/FTT, and perinatal-death prompts.
739	ATP5F1A-related Mitochondrial ATP synthase F1 subunit alpha deficiency	CANDIDATE	Reject SCO1 complex IV candidate; true ATP5F1A complex V gap with alanine, asymmetric white matter lesions, irritability, nystagmus, hypotonia, microcephaly, and perinatal-death prompts.
740	ATP5F1E-related Mitochondrial ATP synthase F1 subunit epsilon deficiency	CANDIDATE	Reject COX10 complex IV candidate; true ATP5F1E complex V gap with adult lactate, hypertrophic cardiomyopathy, hypotonia, polyneuropathy, and psychomotor-delay prompts.
741	MT-ATP6-related Mitochondrial ATP synthase F0 subunit 6 deficiency	UNMAPPED	False negative; resolve primarily to NARP_syndrome.yaml, with Myopathy_Lactic_Acidosis_and_Sideroblastic_Anemia.yaml as MLASA3 context and IEMbase adding broad NARP/MILS, sideroblastic anemia, cardiomyopathy, EEG, stroke-like, ocular, retinal, neuropathy, and lactate prompts.
742	MT-ATP8-related Mitochondrial ATP synthase F0 subunit 8 deficiency	UNMAPPED	Reject HMGCS candidate; true MT-ATP8 complex V gap with partial MT-ATP6/8 context in NARP_syndrome.yaml, preserving adolescent neurologic, visual, neuropathy, cardiomyopathy, and lactate prompts.
744	MT-CYB-related Mitochondrial cytochrome b deficiency	UNMAPPED	Reject HMGCS candidate; true MT-CYB mtDNA-encoded complex III gap with lactate, 3-methylglutaconic acid, CK/transaminases, exercise intolerance, proximal weakness, neuropathy, seizures, neuroimaging, ocular/auditory, gastrointestinal, and cardiomyopathy prompts.
745	CYC1-related Mitochondrial cytochrome c1 deficiency	CANDIDATE	Reject COX4I1 complex IV candidate; true CYC1 complex III nuclear type 6 gap with lactate, hyperammonemia, lactic acidosis, episodic encephalopathy, seizures, liver failure, FTT, and hyperglycemia prompts.
746	CYCS-related Mitochondrial cytochrome c deficiency	UNMAPPED	False negative; resolve to exact CYCS-Related_Thrombocytopenia.yaml, preserving the source label caveat and low thrombocytes/thrombocytopenia phenotype while local adds CYCS respiratory/apoptosis and megakaryocyte-release mechanism.

Batch 64

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
747	HCCS-related Holocytochrome c synthase deficiency	UNMAPPED	Reject HMGCS2 ketogenesis candidate; true HCCS / linear skin defects with multiple congenital anomalies type 1 gap with ocular, skin, neurologic, cardiac, growth, and severe survival prompts.
748	ACSL4-related Long-chain fatty acid-CoA ligase 4 deficiency	UNMAPPED	Reject VLCAD candidate; true ACSL4 / X-linked intellectual disability 63 gap with decreased enzyme activity in fibroblasts and white blood cells plus intellectual disability.
749	AGPAT2-related Lysophosphatidic acid acyltransferase deficiency	MAPPED	Correct exact mapping to Berardinelli_Seip_Congenital_Lipodystrophy.yaml; local CGL1/AGPAT2 coverage captures lipodystrophy, insulin resistance/diabetes, hypertriglyceridemia, hepatomegaly, steatosis, and acylglycerol mechanism.
750	LPIN1-related Lipin 1 deficiency	UNMAPPED	Reject multiple pterygium candidate; true LPIN1 recurrent rhabdomyolysis gap with very high CK, myoglobinuria, muscle cramps, episodic/exercise-induced rhabdomyolysis, acute renal failure, and possible death.
751	LPIN2-related Lipin 2 deficiency	UNMAPPED	True LPIN2 / Majeed syndrome gap with inflammatory bone disease, recurrent fever, psoriasiform dermatitis, microcytic/dyserythropoietic anemia, neutropenia, hepatosplenomegaly, jaundice, ESR, and transaminase prompts.
752	DGAT1-related Diacylglycerol acyltransferase deficiency	UNMAPPED	Reject Travelers' diarrhea candidate; true DGAT1 / congenital diarrhea type 7 gap with chronic diarrhea, protein-losing enteropathy, hypoalbuminemia, low IgG, immunodeficiency, recurrent infection, anemia, acidosis, FTT, and transaminase prompts.
753	ABHD5-related 1-Acylglycerol-3-phosphate O-acyltransferase deficiency	AMBIGUOUS	Exact local coverage exists, best resolved to Dorfman_Chanarin_Disease.yaml; Triglyceride_Storage_Disease_Type_1.yaml appears duplicate/synonymous and should be reconciled while preserving leukocyte vacuole, short stature, and ID prompts.
754	PNPLA2-related Adipose triglyceride lipase deficiency	MAPPED	Correct exact mapping to Neutral_Lipid_Storage_Myopathy.yaml; local core PNPLA2/NLSDM coverage is strong for myopathy, hyperCKemia, lipid storage, cardiomyopathy, and ATGL mechanism, with hepatic/metabolic/Jordans prompts to check.
755	PLIN1-related Perilipin 1 deficiency	UNMAPPED	False negative/partial coverage via Familial_Partial_Lipodystrophy.yaml FPLD4 subtype; local group-level FPLD coverage captures core lipodystrophy/metabolic features but lacks PLIN1-specific cholesterol, low BMI, cushingoid, ovarian failure, and stroke prompts.
756	LIPE-related Hormone-sensitive lipase deficiency	UNMAPPED	False negative/partial coverage via Familial_Partial_Lipodystrophy.yaml FPLD6 subtype; local group-level FPLD coverage captures core lipodystrophy/metabolic features but needs LIPE-specific CK, cholesterol, low BMI, and adult-onset prompts.

Batch 65

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
759	PTDSS1-related Phosphatidylserine synthase 1 superactivity	AMBIGUOUS	Exact disease-file coverage in Lenz-Majewski_hyperostotic_dwarfism.yaml; ambiguity reflects local Classic/Attenuated subtype matches, while IEMbase adds detailed skeletal, craniofacial, genitourinary, gastrointestinal, and neurodevelopmental prompts.
760	PLA2G6-related Phospholipase A2 group 6 deficiency	MAPPED	Correct mapping to Neurodegeneration_With_Brain_Iron_Accumulation.yaml PLAN subtype, with Adult_Onset_Dystonia_Parkinsonism.yaml as narrower spectrum context; IEMbase adds ocular, electrophysiology, seizure, peripheral nerve, and neuroaxonal-dystrophy prompts.
761	DDHD1-related Phosphatidic acid-preferring phospholipase 1 deficiency	UNMAPPED	Reject SCYL1/CALFAN candidate; true DDHD1/SPG28 gap with spastic paraparesis, ataxia, polyneuropathy, retinal/cone-rod dystrophy, optic atrophy, intellectual disability, basal-ganglia, and brain-iron prompts.
762	DDHD2-related Phosphatidic acid-preferring phospholipase 2 deficiency	UNMAPPED	Reject ALDH18A1/SPG9 candidate; true DDHD2/SPG54 gap with developmental delay, behavioral disorder, microcephaly, spastic paraparesis, pyramidal signs, bulbar dysfunction, abnormal eye movements, brainstem/cerebellar/corpus-callosum MRI prompts, and source OMIM review needed.
763	PNPLA6-related Spastic paraplegia type 39	UNMAPPED	False negative/partial coverage via Boucher-Neuhauser_Syndrome.yaml, which is locally curated as a PNPLA6 spectrum entry including SPG39; preserve GH deficiency, hypothyroidism, chorioretinal degeneration, hypogonadotropic hypogonadism, neuropathy, spasticity, and ataxia prompts.
764	CYP2U1-related Spastic paraplegia 56	CANDIDATE	Reject GBA2/SPG46 candidate; true CYP2U1/SPG56 gap with CSF 5-MTHF, basal-ganglia calcification, pigmentary maculopathy, thin corpus callosum, dystonia, neuropathy, intellectual disability, psychomotor regression, and spastic paraplegia prompts.
765	ABHD12-related Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract syndrome	UNMAPPED	False negative; exact local coverage exists in PHARC_syndrome.yaml, which covers ABHD12, lysophosphatidylserine mechanism, peripheral neuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.
766	TBXAS1-related Thromboxane synthase deficiency	UNMAPPED	Reject HMGCS2 ketogenesis candidate; true TBXAS1/Ghosal hematodiaphyseal syndrome gap with diaphyseal/metaphyseal thickening, anemia, bone pain/swelling, thrombocytopenia, leukocytosis, splenomegaly, and cutis verticis gyrata prompts.
767	HPGD-related 15-Hydroxy-prostaglandin dehydrogenase deficiency	CANDIDATE	Accept Primary_Hypertrophic_Osteoarthropathy.yaml PHOAR1 subtype as exact local coverage; concordant for HPGD/PGE2 mechanism and PHO triad, with IEMbase normal PGE-M conflicting with local decreased PHOAR1 PGE-M evidence and needing review.
768	SLCO2A1-related Prostaglandin transporter deficiency	CANDIDATE	Accept Primary_Hypertrophic_Osteoarthropathy.yaml PHOAR2 subtype as exact local coverage; concordant for SLCO2A1, high urinary PGE2/PGE-M, PHO triad, anemia, myelofibrosis, and peptic ulcer, with chronic gastritis as a completeness prompt.

Batch 66

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
769	TREX1-related 3-prime repair exonuclease 1 deficiency	AMBIGUOUS	Exact subtype coverage in Aicardi_Goutieres_Syndrome.yaml subtype Aicardi-Goutieres syndrome 1; ambiguity reflects disease-level plus subtype match, with CSF neopterin, feeding, sleep, startle, platelet, and optional cardiopulmonary/ocular rows as prompts.
770	RNASEH2B-related ribonuclease H2 subunit B deficiency	AMBIGUOUS	Exact subtype coverage in Aicardi_Goutieres_Syndrome.yaml subtype Aicardi-Goutieres syndrome 2; preserve local RNASEH2B IFN-negative nuance while treating IEMbase CSF neopterin, feeding, sleep, startle, and platelet rows as prompts.
773	RNASET2-related ribonuclease T2 deficiency	UNMAPPED	Reject COA8-Related_COX_Deficiency.yaml; true RNASET2 cystic leukoencephalopathy gap with congenital cystic leukoencephalopathy without megalencephaly, calcifications, microcephaly, spasticity, psychomotor delay, seizures, movement disorder, and hearing-loss prompts.
774	SAMHD1-related stenosis, aneurysm, moyamoya and stroke association	AMBIGUOUS	Exact subtype coverage in Aicardi_Goutieres_Syndrome.yaml subtype Aicardi-Goutieres syndrome 5; local captures SAMHD1 vasculopathy mostly in mechanism/prose, while IEMbase adds explicit stenosis, aneurysm, moyamoya, and stroke prompts.
775	ADAR-related RNA-specific adenosine deaminase deficiency	AMBIGUOUS	Exact subtype coverage in Aicardi_Goutieres_Syndrome.yaml subtype Aicardi-Goutieres syndrome 6; IEMbase usefully highlights bilateral striatal degeneration as an ADAR-specific phenotype prompt.
776	IFIH1-related MDA5 superactivity	AMBIGUOUS	Exact subtype coverage in Aicardi_Goutieres_Syndrome.yaml subtype Aicardi-Goutieres syndrome 7; concordant for dominant IFIH1 gain-of-function AGS, with isolated spastic paraparesis and CSF neopterin as prompts.
777	TMEM173-related STING superactivity	MAPPED	Correct exact mapping to STING_Associated_Vasculopathy_with_Onset_in_Infancy.yaml; local captures STING1/TMEM173 gain-of-function, interferonopathy, ILD, vasculopathy, arthritis, and JAK context, while IEMbase adds immune-lab, recurrent infection, lymphadenopathy, nail, and gangrenous vasculopathy prompts.
778	OAS1-related 2-prime,5-prime-oligoadenylate synthetase 1 deficiency	UNMAPPED	Reject Holocarboxylase_Synthetase_Deficiency.yaml and do not collapse into CSF2RA/CSF2RB hereditary PAP; true OAS1/PAPHG gap with pulmonary alveolar proteinosis, hypogammaglobulinemia, viral susceptibility, leukocyte-count ambiguity, small non-foamy macrophages, and early-death prompts.
779	ABCC6-related generalized arterial calcification of infancy type 2	AMBIGUOUS	Exact subtype coverage in Arterial_Calcification_of_Infancy.yaml subtype ABCC6-related; preserve ABCC6-vs-ENPP1 distinction and review renal/coronary/valve/joint calcification, myocardial infarction, nephrocalcinosis, and low-frequency ABCC6 rickets prompts.
780	ENPP1-related ectonucleotide pyrophosphatase-phosphodiesterase 1 deficiency	AMBIGUOUS	Exact subtype coverage in Arterial_Calcification_of_Infancy.yaml subtype ENPP1-related; local captures PPi/FGF23/rickets/hearing-loss mechanism, while IEMbase adds prenatal, dental, angioid-streak, renal/coronary/valve, myocardial infarction, and joint-calcification prompts.

Batch 67

IEMbase ID	IEMbase disease	Generated mapping status	Manual conclusion
781	ENPP1-related Ectonucleotide pyrophosphatase-phosphodiesterase 1 dimerization deficiency	UNMAPPED	True local gap for autosomal dominant Cole disease; reject ENPP1-related GACI because local ENPP1 coverage is recessive arterial calcification/rickets rather than dimerization-defect palmoplantar keratoderma, hypopigmented macules, calcinosis, and tendinopathy.
782	NT5E-related Ecto-5'-nucleotidase deficiency	MAPPED	Correct exact mapping to Hereditary_Arterial_and_Articular_Multiple_Calcification_Syndrome.yaml; local captures CD73/adenosine/TNAP/PPi mechanism, arterial and periarticular calcification, claudication, joint disease, etidronate, and support care; IEMbase adds tendon and valve/aortic-ring prompts.
783	SLC29A1-related Equilibrative nucleoside transporter 1 deficiency	UNMAPPED	True local gap for SLC29A1/ENT1 Augustine-null blood type with ectopic mineralization; reject SLC35A2-CDG.yaml and incidental ENT1 transporter mentions.
784	SLC29A3-related Equilibrative nucleoside transporter 3 deficiency	UNMAPPED	Partial local context exists in Rosai-Dorfman_Disease.yaml for familial RDD/Faisalabad histiocytosis and SLC29A3, but no exact broad H-syndrome/SLC29A3-spectrum target exists; IEMbase adds endocrine, skeletal, pigmentary, deafness, and inflammatory prompts.
785	AICDA-related Activation-induced cytidine deaminase deficiency	UNMAPPED	True local gap for AICDA/HIGM2; reject ADA-SCID and generic hyper-IgM-like neighbors because local entries do not capture AICDA class-switch failure, giant germinal centers, low IgG/IgA/IgE, normal B-cell counts, and normal-to-high IgM.
786	UNG-related Uracil-DNA glycosylase deficiency	UNMAPPED	True local gap for UNG/HIGM5; reject IKBKG and other hyper-IgM-like neighbors because they have different genes and mechanisms despite overlapping class-switch phenotypes.
788	AMPD2-related Adenosine monophosphate deaminase 2 deficiency	CANDIDATE	Reject generated Pontocerebellar_Hypoplasia.yaml#PCH2 candidate; broad PCH context exists but no AMPD2/PCH9 subtype is modeled locally, so preserve microcephaly, seizures, psychomotor delay, and dysmorphic craniofacial prompts as a gap.
789	AMPD3-related Erythrocyte adenosine monophosphate deaminase 3 deficiency	UNMAPPED	True local gap and likely low-priority trait; IEMbase reports no clinical significance, so do not over-map to hereditary orotic aciduria or symptomatic purine/red-cell disorders.
790	ADA2-related Adenosine deaminase 2 deficiency	UNMAPPED	False negative; exact local coverage exists in Deficiency_of_Adenosine_Deaminase_2.yaml, with concordant ADA2/CECR1, low enzyme activity, recessive inheritance, and polyarteritis-nodosa vasculopathy; Sneddon-like disease is a phenotype prompt, not a separate mapping.
791	AK1-related Adenylate kinase 1 deficiency	UNMAPPED	True local gap for AK1 nonspherocytic hemolytic anemia with low RBC adenylate kinase activity and basophilic stippling; reject adenosine kinase deficiency, lead poisoning, and generic hemolytic anemia entries as exact coverage.