Disease overview
Alterations
49
Molecular (A)
0
Clinical (B–E)
49
Direct drugs
0
Via biomarker
7
Natural agents
0
Natural products
0
Merged ranked
7
Alterations
49 total · Types A (molecular) through E (functional)
| Name | Type | Subtype | Direction | Frequency | Evidence | Sources | Links |
|---|---|---|---|---|---|---|---|
| Abnormal abdomen morphology | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Anteverted nares | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Aplasia/Hypoplasia of the cerebellar vermis | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Ataxia | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Cerebellar vermis hypoplasia | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Cirrhosis | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Coloboma | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Dystonia | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Elevated circulating hepatic transaminase concentration | Lab / Clinical | Lab value | — | — | Moderate | HPO, Monarch | HPO |
| Encephalocele | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Esophageal varix | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Generalized hypotonia | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Global developmental delay | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Growth delay | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Hepatic fibrosis | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Hepatomegaly | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Hyperreflexia | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Hypertelorism | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Hypertension | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Hypotonia | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Intrahepatic bile duct dilatation | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Moderate intellectual disability | Functional | Functional test | — | — | Moderate | HPO, Monarch | HPO |
| Molar tooth sign on MRI | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Multiple small medullary renal cysts | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Nephronophthisis | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Nystagmus | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Occipital encephalocele | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Oculomotor apraxia | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Optic disc pallor | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Portal hypertension | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Postaxial hand polydactyly | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Ptosis | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Renal cyst | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Round face | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Seizure | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Spasticity | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Splenomegaly | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Stage 5 chronic kidney disease | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Unilateral renal agenesis | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Vascular dilatation | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Wide mouth | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Duration of Response | Lab / Clinical | Lab value | — | — | Emerging | ClinicalTrials.gov | — |
| Effectiveness of caregiver massage to reduce child and caregiver distress and promote child health-related quality of life | Scales & PROs | Clinical scale | — | — | Emerging | ClinicalTrials.gov | — |
| Incidence of Graft Rejection | Lab / Clinical | Lab value | — | — | Emerging | ClinicalTrials.gov | — |
| Incidence of Non-relapse Mortality | Lab / Clinical | Lab value | — | — | Emerging | ClinicalTrials.gov | — |
| Overall survival | Lab / Clinical | Lab value | — | — | Emerging | ClinicalTrials.gov | — |
| Probability of severe (grade III/IV) GVHD in each arm | Lab / Clinical | Lab value | — | — | Emerging | ClinicalTrials.gov | — |
| Quality of life | Scales & PROs | Clinical scale | — | — | Emerging | ClinicalTrials.gov | — |
| The Proportion of Participants Who Experienced a Systemic Allergic Reaction (CoFAR Grade 2+ Regardless of Tryptase or CoFAR Grade 1 With Elevated Tryptase) Within 90 Minutes Post-vaccination to the First Dose, Adjusting for Placebo. | Lab / Clinical | Lab value | — | — | Emerging | ClinicalTrials.gov | — |
Therapeutics
Direct disease associations, biomarker-linked drugs, OSMF narrative-review natural agents, and merged ranking. Only agents with registry trials or published clinical literature are shown by default.
| Drug | Type | Phase | Evidence | Score | Price (UK / US) | Trials & literature | Sources | Links |
|---|---|---|---|---|---|---|---|---|
| CETIRIZINE | Small molecule | Approved | Strong | 90 | UK £1–£2 / 30 tabs (10mg) · US $4 / 30 tabs (GoodRx) | 2 pubs View evidence |
Clinical practice, Literature | — |
| FAMOTIDINE Repurposing | Small molecule | Approved | Strong | 88 | UK £2–£4 / 28–60 tabs · US $5–$10 / 30–60 tabs (Cost Plus) | 2 pubs View evidence |
Clinical practice, Literature | — |
| MONTELUKAST Repurposing | Small molecule | Approved | Moderate | 82 | UK £2–£5 / 28 tabs · US $5–$12 / 30 tabs | 2 pubs View evidence |
Literature | — |
| LORATADINE | Small molecule | Approved | Strong | 85 | UK £1–£2 / 30 tabs · US $3–$6 / 30 tabs | 2 pubs View evidence |
Clinical practice | — |
| KETOTIFEN Repurposing | Small molecule | Approved | Moderate | 80 | UK £8–£15 / 30–60 tabs · US $10–$20 / supply | 2 pubs View evidence |
Literature, OSMF review | — |
| CROMOLYN SODIUM Repurposing | Small molecule | Approved | Moderate | 78 | UK £10–£20 / inhaler or amps · US $15–$30 / supply | 2 pubs View evidence |
Clinical practice | — |
| FEXOFENADINE | Small molecule | Approved | Strong | 83 | UK £3–£6 / 30 tabs (120-180mg) · US $8–$15 / 30 tabs | 2 pubs View evidence |
Clinical practice | — |
No therapeutics in this section.
| Drug | Type | Phase | Evidence | Score | Price (UK / US) | Trials & literature | Sources | Links |
|---|---|---|---|---|---|---|---|---|
| CETIRIZINE via Clinical phenotype (MCAS) | Small molecule | Approved | Strong | 90 | UK £1–£2 / 30 tabs (10mg) · US $4 / 30 tabs (GoodRx) | 2 pubs View evidence |
Clinical practice, Literature | — |
| FAMOTIDINE Repurposing via Clinical phenotype (MCAS) | Small molecule | Approved | Strong | 88 | UK £2–£4 / 28–60 tabs · US $5–$10 / 30–60 tabs (Cost Plus) | 2 pubs View evidence |
Clinical practice, Literature | — |
| MONTELUKAST Repurposing via Clinical phenotype (MCAS) | Small molecule | Approved | Moderate | 82 | UK £2–£5 / 28 tabs · US $5–$12 / 30 tabs | 2 pubs View evidence |
Literature | — |
| LORATADINE via Clinical phenotype (MCAS) | Small molecule | Approved | Strong | 85 | UK £1–£2 / 30 tabs · US $3–$6 / 30 tabs | 2 pubs View evidence |
Clinical practice | — |
| KETOTIFEN Repurposing via Clinical phenotype (MCAS) | Small molecule | Approved | Moderate | 80 | UK £8–£15 / 30–60 tabs · US $10–$20 / supply | 2 pubs View evidence |
Literature, OSMF review | — |
| CROMOLYN SODIUM Repurposing via Clinical phenotype (MCAS) | Small molecule | Approved | Moderate | 78 | UK £10–£20 / inhaler or amps · US $15–$30 / supply | 2 pubs View evidence |
Clinical practice | — |
| FEXOFENADINE via Clinical phenotype (MCAS) | Small molecule | Approved | Strong | 83 | UK £3–£6 / 30 tabs (120-180mg) · US $8–$15 / 30 tabs | 2 pubs View evidence |
Clinical practice | — |
Alterations and therapeutics are aggregated from public databases (Open Targets, HPO, ChEMBL, DGIdb, and others). Natural agents are candidates from OSMF narrative reviews on opensourcemed.info/chronic-disease.html — not approved treatments. This page is for research orientation only — not medical advice.