Checking the 2025 DNAH7 paper next, then I'll write the report.

Research Report: Primary Ciliary Dyskinesia 50 (CILD50, DNAH7-related)

Evidence caveat. This report rests on only a few sources I could open: the ZFIN/Disease Ontology entry for OMIM:620356, a fetched page for the 2021 Acta Biochim Biophys Sin paper, a PubMed search listing, and an Ensembl lookup. OMIM and PubMed abstracts returned 403 or cookie pages, so I have no verbatim abstract for any paper. Two quotes below come from a summary of the 2021 paper's abstract and are marked as such. Everything that is general knowledge about PCD, not DNAH7-specific, is labelled "inferred" or "not verified". Nothing here is ready to use as a snippet without just fetch-reference and checking against the cached text.

1. Disease information

• Name and identifiers. Ciliary dyskinesia, primary, 50 (CILD50; PCD50). OMIM phenotype #620356, gene OMIM 610061. The ZFIN/DO entry gives the MONDO ID MONDO:0957252 as supplied in the request. I could not independently confirm that ID, and a MONDO search returned no hit for it. Look it up in OLS before binding it.
• Overview. The Disease Ontology definition describes a form of PCD caused by homozygous or compound heterozygous mutation in DNAH7 (2q32). It lists chronic sinusitis, bronchitis and male infertility, with sperm flagella defects tied to loss of inner dynein arms (IDAs) (ZFIN DOID:0070763).
• Synonym. CILD50.
• Data origin. The case-level data come from small research cohorts of infertile men, not EHR. The disease-level definition is aggregated from OMIM and DO.

2. Etiology

• Cause. Biallelic (recessive) DNAH7 variants. DNAH7 encodes an axonemal inner-arm dynein heavy chain.
• Risk and protective factors, gene-environment interactions. None reported for this entity in the sources I saw.

3. Phenotypes (HPO suggestions are inferred, not looked up)

Evidence is limited to three men in the 2021 study and an apparent 2025 follow-up.

• Not established. The sources I saw do not establish situs inversus, neonatal respiratory distress, bronchiectasis or otitis media for this subtype. I could not check frequency, onset or quality of life.
• Caution. The 2021 paper describes the men as having normal physical development, hormones, genitalia and testes. The respiratory phenotype comes from only three patients.

4. Genetic and molecular information

• Gene. DNAH7 (hgnc ID not looked up; resolve it with just validate-terms). It is at chr2:195,737,524–196,068,848 (GRCh38), reverse strand. The Ensembl ID is ENSG00000118997, with canonical transcript ENST00000312428.11.
• Variants. The 2021 paper (NM_018897.3) reported:

All are missense variants in AAA domains and were predicted damaging. c.10390G>A and c.10601A>G were novel in gnomAD. The "loss-of-function" label for the 2025 paper's title is from the search listing only. - Origin. Germline. - Modifier genes, epigenetics, chromosomal abnormalities. None identified.

5. Environmental information

None identified in the sources reviewed.

6. Mechanism and pathophysiology

Causal chain (steps 3 to 5 are demonstrated in patient sperm; steps 6 and 7 are inferred from the general PCD model):

1. Biallelic germline DNAH7 variants alter conserved AAA-domain residues.
2. This is expected to impair DNAH7 inner-arm dynein heavy chain function (inferred).
3. DNAH7 signal along patient sperm flagella is decreased.
4. DNAH1, another IDA marker, is also reduced.
5. Transmission electron microscopy shows severe IDA loss. The outer dynein arm marker DNAI2, the radial spoke marker RSPH1 and the periaxonemal marker AKAP4 stain like controls.
6. Loss of IDAs weakens axonemal motility, which gives asthenozoospermia and male infertility.

7. By analogy, impaired motile cilia would cause chronic sinus and bronchial disease (inferred; direct ciliary data are not in the sources I read).

8. Suggested GO terms (unverified): inner dynein arm (GO:0036156), axonemal dynein complex assembly (GO:0070286), cilium movement (GO:0003341). Pull the exact CURIEs and labels from OLS or the term cache.

9. Cell types: spermatozoon (CL:0000019) and respiratory ciliated epithelial cell (CL:0002145). Verify both.
10. Omics and advanced technologies. I found none.

7. Anatomical structures affected

• Sperm flagellum axoneme: directly shown.
• Upper and lower respiratory tract: chronic sinusitis and bronchitis reported.
• UBERON and lateralization: not verified.

8–9. Temporal development, inheritance and population

• Inheritance. Autosomal recessive, with both homozygous and compound heterozygous cases (HP:0000007; verify).
• Prevalence, penetrance, founder effects, sex ratio. Not available. The PCD-wide prevalence estimate of roughly 1:7,500–1:20,000 from search results is not specific to this subtype.
• Onset. Not reported. The affected men were identified in adulthood through infertility work-ups.

10. Diagnostics

• Cohort screen. Whole-exome sequencing of 85 infertile men with idiopathic asthenozoospermia found biallelic DNAH7 variants in three.
• Sperm TEM. Showed IDA loss.
• Sperm immunofluorescence. Showed reduced DNAH7 and DNAH1.
• Not verified. Nasal nitric oxide, high-speed video analysis and nasal brush TEM in these patients. Standard PCD guidelines would apply, but none of the sources I read covers them.

11. Prognosis

No data.

12. Treatment

• Reproductive. All three couples in the 2021 study had clinical pregnancies after intracytoplasmic sperm injection (ICSI). OMIM also notes successful ICSI pregnancy. A suggested NCIT term is a reproductive technique term; look it up.
• Respiratory. Standard PCD supportive care (airway clearance, antibiotics for infections) is inferred and has no DNAH7-specific evidence in what I read.
• Trials. None identified.

13. Prevention

Genetic counseling for an autosomal recessive condition. The ICSI outcome carries a recurrence-risk implication for offspring; carrier testing of partners is the usual approach, but I have no source on it.

14–15. Other species and model organisms

Not researched. The Tbc1d21 mouse paper (PMID 32976492) names Dnah7 as a candidate interactor of TBC1D21. That is not a Dnah7 model. A DNAH7 knockout phenotype should be checked at MGI and ZFIN.

Key references

Next steps

1. Run just fetch-reference PMID:34476482 and PMID:40810911.
2. Read the OMIM #620356 text to see which paper it cites for the DNAH7 association. I could not tell whether the OMIM entry rests on the 2021 paper.
3. Check whether any DNAH7 case reports describe respiratory cilia directly. The respiratory phenotype for this entry currently rests on a few men's self-reported "PCD-like symptoms".
4. Per the lump/split rules in CLAUDE.md, decide whether this belongs as its own entry or a has_subtypes row on a PCD parent. The evidence base is thin.

Sources: - ZFIN DOID:0070763 (CILD50 definition) - Bi-allelic mutations in DNAH7 cause asthenozoospermia (OUP) - PubMed search listing for DNAH7 / asthenozoospermia - Ensembl DNAH7 lookup - OMIM #620356 (search listing only; page not opened)

Reference Validation

Checked with linkml-reference-validator 0.3.0.

All extracted references resolved successfully.

Term Validation

Checked with linkml-term-validator 0.4.5, through the ols: adapter.

Terms the report names something else

These identifiers resolve, so nothing about them looks wrong, and the ontology calls them something unrelated to what the report calls them. That usually means the identifier is not the one the sentence needs:

• HP:0012206 (1 mention) - the report calls it "Asthenozoospermia"; HP calls it Abnormal sperm motility

Terms whose name is worth a second look

The report's name for these is recognisably related to the term's own name without being one of them. A loose paraphrase reads the same way as a citation of the wrong sibling term - and so does a related synonym, which the ontology records precisely because it names something adjacent rather than the same thing - so these are listed rather than judged:

• DOID:0070763 (5 mentions) - the report calls it "CILD50 definition"; DOID calls it primary ciliary dyskinesia 50, and lists "CILD50" among its other names
• CL:0000019 (1 mention) - the report calls it "Cell types: spermatozoon"; CL calls it sperm**, and lists "spermatozoon" among its other names

Prefixes with no resolver

Terms carrying these prefixes were not checked either way, because no configured ontology covers them. An unrecognised prefix may name an ontology this run could not reach as easily as one that does not exist, so nothing here is evidence of fabrication: OMIM.