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ORPHA:99927

Hydatidiform mole

low confidenceDisorder

Also known as: Molar pregnancy

Publications

10,724

Trials

9

Interventional, condition-specific

Researchers

1,009

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, benign gestational trophoblastic disease that develops during pregnancy and is characterized by the abnormal fertilization, trophoblastic proliferation, and abnormal or absent embryo development. Hydatidiform moles can be either complete or partial.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

hydatid mole · hydatidiform mole · molar pregnancy

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    10,724 matched papers (2,983 in last 10 years) Source

  3. Phenotype characterisedPresent

    12 HPO annotations (e.g. Hydatidiform mole; Female infertility) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    9 matched on ClinicalTrials.gov (1 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

12

Associated phenotypes · MONDO:0006248

  • Hydatidiform mole
  • Female infertility

Showing 2 of 12 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

3

Drugs / clinical candidates · MONDO_0006248

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

10,724

10,724 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

10,724 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

2,983 in the last 10 years · low confidence

Phrase hits: 10,724 · MeSH hits: 105

Open Europe PMC search

Who's working on it?

1,009

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Braga A12 papers · 2026

    Department of Maternal and Child Medicine, Universidade Federal Fluminense (UFF), Niterói, RJ, Brazil; Department of Obstetrics and Gynecology, Universidade Federal Rio de Janeiro (UFF), Rio de Janeiro, RJ, Brazil; University of Vassouras, Postgraduate Program in Applied Health Sciences, Vassouras, RJ, Brazil.

    Papers in Europe PMC
  2. 02
    Cai L7 papers · 2026

    Department of Obstetrics and Gynecology, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.

    Papers in Europe PMC
  3. 03
    Sun SY7 papers · 2026

    Universidade Federal de São Paulo, Escola Paulista de Medicina, Department of Obstetrics - São Paulo (SP), Brazil.

    Papers in Europe PMC
  4. 04
    Araujo Júnior E5 papers · 2026

    Universidade Federal de São Paulo, Escola Paulista de Medicina, Department of Obstetrics - São Paulo (SP), Brazil.

    Papers in Europe PMC
  5. 05
    Berkowitz RS5 papers · 2026

    New England Trophoblastic Disease Center, Division of Gynecologic Oncology, Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Dana-Farber Cancer Institute, Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA.

    Papers in Europe PMC
  6. 06
    Li Y5 papers · 2026

    Department of Laboratory Medicine, Obstetrics & Gynecology and Pediatrics, West China Second University Hospital, Sichuan University; Key laboratory of birth defects and related diseases of women and children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China.

    Papers in Europe PMC
  7. 07
    Zhao Y5 papers · 2026

    Department of Gynecology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 310003, China.

    Papers in Europe PMC
  8. 08
    Horowitz NS4 papers · 2026

    New England Trophoblastic Disease Center, Division of Gynecologic Oncology, Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Dana-Farber Cancer Institute, Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA.

    Papers in Europe PMC
  9. 09
    Kajiyama H4 papers · 2026

    Department of Obstetrics and Gynecology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

    Papers in Europe PMC
  10. 10
    Niimi K4 papers · 2026

    Department of Obstetrics and Gynecology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

9

interventional trials for this specific condition

9 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026

9 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92th percentile).

low confidence · 92th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

9 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

4 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 31 · after dedupe 31 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 31 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (31)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Hydatidiform mole — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Hydatidiform mole" OR "Molar pregnancy" OR "hydatid mole"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Hydatidiform Mole

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Hydatidiform mole" OR "Molar pregnancy" OR "hydatid mole"

Interventional trials matched via: both, phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 9 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (10724) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T06:40:39.150Z